http://identifiers.org/exac.variant/1-34071489-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071489
    reference: chr 1
allele count: 385
allele frequency: 3.304834500755391e-3
allele num: 116496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-419T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-419T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6323T>G
  hgvsp: ENSP00000241312.4:p.Val2108Gly
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-419T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-419T>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 35223
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Val2108Gly
num of homozygotes: 8
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-34071492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071492
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071492
    reference: chr 1
allele count: 3
allele frequency: 2.563751965543173e-5
allele num: 117016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-422A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-422A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-422A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6320A>G
  hgvsp: ENSP00000241312.4:p.Tyr2107Cys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-422A>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr2107Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-34071493-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071494
    reference: chr 1
allele count: 1
allele frequency: 8.532277606184194e-6
allele num: 117202
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-424dupC
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6318dupC
  hgvsp: ENSP00000241312.4:p.Tyr2107LeufsTer6
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-424dupC
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-424dupC
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-424dupC
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr2107LeufsTer6
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-34071493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071493
    reference: chr 1
allele count: 9
allele frequency: 7.679049845565776e-5
allele num: 117202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-423T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-423T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-423T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6319T>C
  hgvsp: ENSP00000241312.4:p.Tyr2107His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-423T>C
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35444
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr2107His
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-34071499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071499
    reference: chr 1
allele count: 3
allele frequency: 2.545349646196399e-5
allele num: 117862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-429G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-429G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6313G>A
  hgvsp: ENSP00000241312.4:p.Ala2105Thr
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-429G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-429G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2105Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-34071500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071500
    reference: chr 1
allele count: 1
allele frequency: 8.467543904215143e-6
allele num: 118098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-430C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6312C>T
  hgvsp: ENST00000241312.4:c.6312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-430C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-430C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-430C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala2104Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-34071502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071502
    reference: chr 1
allele count: 2
allele frequency: 1.691103106556407e-5
allele num: 118266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6310G>A
  hgvsp: ENSP00000241312.4:p.Ala2104Thr
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-432G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-432G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-432G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-432G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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  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
  all individuals: 138
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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: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2104Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

1-34071503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071503
    reference: chr 1
allele count: 3
allele frequency: 2.532543179861217e-5
allele num: 118458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-433C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-433C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6309C>T
  hgvsp: ENST00000241312.4:c.6309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-433C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-433C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  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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  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
  all individuals: 390
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
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genotype depth: GenotypeDepth
  all individuals: 701
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val2103Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-34071505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071505
    reference: chr 1
allele count: 4
allele frequency: 3.371316836356281e-5
allele num: 118648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-435G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-435G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6307G>A
  hgvsp: ENSP00000241312.4:p.Val2103Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-435G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-435G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val2103Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-34071506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071506
    reference: chr 1
allele count: 16
allele frequency: 1.347209592132296e-4
allele num: 118764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-436C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-436C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6306C>T
  hgvsp: ENST00000241312.4:c.6306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-436C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-436C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2102Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-34071507-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071507
    reference: chr 1
allele count: 10
allele frequency: 8.412409987213137e-5
allele num: 118872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-437C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-437C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-437C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6305C>G
  hgvsp: ENSP00000241312.4:p.Pro2102Arg
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-437C>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro2102Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

1-34071510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071510
    reference: chr 1
allele count: 1
allele frequency: 8.392359595823962e-6
allele num: 119156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-440C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6302C>T
  hgvsp: ENSP00000241312.4:p.Pro2101Leu
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-440C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-440C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-440C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro2101Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-34071514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071514
    reference: chr 1
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-444A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6298A>G
  hgvsp: ENSP00000241312.4:p.Thr2100Ala
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-444A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-444A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-444A>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2100Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-34071514-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071514
    reference: chr 1
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-444A>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-444A>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6298A>C
  hgvsp: ENSP00000241312.4:p.Thr2100Pro
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-444A>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-444A>C
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr2100Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-34071521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071521
    reference: chr 1
allele count: 164
allele frequency: 1.370229262749816e-3
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6291C>T
  hgvsp: ENST00000241312.4:c.6291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-451C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-451C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-451C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-451C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35494
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 9.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 36036
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2097Thr
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

1-34071523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071523
    reference: chr 1
allele count: 3
allele frequency: 2.505553977984532e-5
allele num: 119734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6289A>G
  hgvsp: ENSP00000241312.4:p.Thr2097Ala
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-453A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-453A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-453A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-453A>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35420
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 9.75e1
  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: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8187
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr2097Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-34071525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071525
    reference: chr 1
allele count: 69104
allele frequency: 5.726787549308847e-1
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-455G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6287G>A
  hgvsp: ENSP00000241312.4:p.Arg2096Lys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-455G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-455G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-455G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 9.75e1
  variant carriers: 4933
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 4977
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 5.25e1
  variant carriers: 4569
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 1086
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 788
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 6.25e1
  variant carriers: 2722
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 6.75e1
  variant carriers: 2067
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 5.75e1
  variant carriers: 3618
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 4.75e1
  variant carriers: 5229
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 3920
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.25e1
  variant carriers: 1795
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 4.25e1
  variant carriers: 5375
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.75e1
  variant carriers: 2876
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.25e1
  variant carriers: 816
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 7.25e1
  variant carriers: 1654
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.75e1
  variant carriers: 1319
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 1015
genotype quality: GenotypeQuality
  all individuals: 9474
  bin: 6.25e1
  variant carriers: 318
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.25e1
  variant carriers: 585
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 499
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 45492
  bin: 9.75e1
  variant carriers: 45054
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 31
hgvs: p.Arg2096Lys
num of homozygotes: 20217
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-34071528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071528
    reference: chr 1
allele count: 4
allele frequency: 3.32562895957698e-5
allele num: 120278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-458A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6284A>G
  hgvsp: ENSP00000241312.4:p.Glu2095Gly
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-458A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-458A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-458A>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu2095Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-34071533-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071533
    reference: chr 1
allele count: 15
allele frequency: 1.247463490901833e-4
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-463G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-463G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-463G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6279G>C
  hgvsp: ENSP00000241312.4:p.Glu2093Asp
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-463G>C
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu2093Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

1-34071536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071536
    reference: chr 1
allele count: 4
allele frequency: 3.327953142419755e-5
allele num: 120194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-466G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-466G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6276G>A
  hgvsp: ENST00000241312.4:c.6276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-466G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-466G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2092Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

1-34071541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071541
    reference: chr 1
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-471C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-471C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-471C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6271C>T
  hgvsp: ENSP00000241312.4:p.Leu2091Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-471C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2091Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

1-34071543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071543
    reference: chr 1
allele count: 6
allele frequency: 5.001667222407469e-5
allele num: 119960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-473A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-473A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6269A>G
  hgvsp: ENSP00000241312.4:p.Asp2090Gly
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-473A>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-473A>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 43329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp2090Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-34071550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071550
    reference: chr 1
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6262G>A
  hgvsp: ENSP00000241312.4:p.Gly2088Ser
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-480G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-480G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-480G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-480G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 178
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43887
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genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6948
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly2088Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-34071563-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071563
    reference: chr 1
allele count: 4
allele frequency: 3.353116721993092e-5
allele num: 119292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6249T>G
  hgvsp: ENST00000241312.4:c.6249T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-493T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-493T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-493T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-493T>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27592
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 213
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2083Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-34071584-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071584
    reference: chr 1
allele count: 2
allele frequency: 1.719069639511097e-5
allele num: 116342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-514G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-514G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-514G>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6228G>C
  hgvsp: ENSP00000241312.4:p.Leu2076Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-514G>C
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25388
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu2076Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-34071584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071584
    reference: chr 1
allele count: 1
allele frequency: 8.595348197555483e-6
allele num: 116342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-514G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-514G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6228G>A
  hgvsp: ENST00000241312.4:c.6228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-514G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-514G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu2076Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-34071595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071595
    reference: chr 1
allele count: 1
allele frequency: 8.803901889317345e-6
allele num: 113586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-525G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-525G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-525G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-7G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-525G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 88
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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: 6.75e1
  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
  all individuals: 3714
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: c.6224-7G>A
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-34071600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071600
    reference: chr 1
allele count: 1
allele frequency: 8.906305664410403e-6
allele num: 112280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-530T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-530T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-12T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-530T>C
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-530T>C
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
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genotype depth: GenotypeDepth
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  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
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
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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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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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-34071613-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071613
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071613
    reference: chr 1
allele count: 1
allele frequency: 9.241460890137512e-6
allele num: 108208
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-25T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-543T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-543T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-543T>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-543T>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 616
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genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6192
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14787
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

1-34071620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071620
    reference: chr 1
allele count: 2
allele frequency: 1.875046876171904e-5
allele num: 106664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-550C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-550C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-550C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-550C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-32C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
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genotype quality: GenotypeQuality
  all individuals: 15536
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 333
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 531
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2428
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genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

1-34071634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071634
    reference: chr 1
allele count: 4
allele frequency: 4.01429087551684e-5
allele num: 99644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-564C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-564C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-564C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-564C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-46C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
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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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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: 300
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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
  all individuals: 531
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5674
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genotype quality: GenotypeQuality
  all individuals: 698
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

1-34071634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071634
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071634
    reference: chr 1
allele count: 1
allele frequency: 1.00357271887921e-5
allele num: 99644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-564C>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-564C>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-46C>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-564C>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-564C>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8986
  bin: 3.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12950
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-34071638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34071638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34071638
    reference: chr 1
allele count: 2
allele frequency: 2.063089269872707e-5
allele num: 96942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.641-568C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.641-568C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6344-568C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6224-50C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2963-568C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-34076602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076602
    reference: chr 1
allele count: 1
allele frequency: 1.059681247880638e-5
allele num: 94368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+39C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+39C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+39C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+39C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+39C>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
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genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-34076603-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076603
    reference: chr 1
allele count: 1
allele frequency: 1.056166958872859e-5
allele num: 94682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+38T>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+38T>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+38T>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+38T>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+38T>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
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genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 364
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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: 1840
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-34076606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076606
    reference: chr 1
allele count: 1
allele frequency: 1.053341198280947e-5
allele num: 94936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+35C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+35C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+35C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+35C>G
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+35C>G
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 7.5e0
  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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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-34076612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076612
    reference: chr 1
allele count: 1
allele frequency: 1.035025254616213e-5
allele num: 96616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+29C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+29C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+29C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+29C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+29C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-34076621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076621
    reference: chr 1
allele count: 2
allele frequency: 1.986294567484358e-5
allele num: 100690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+20C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+20C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+20C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+20C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+20C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
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genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-34076622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076622
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076622
    reference: chr 1
allele count: 6
allele frequency: 5.942829975634397e-5
allele num: 100962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+19G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+19G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+19G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+19G>A
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+19G>A
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25412
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28082
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 494
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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: 1387
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-34076623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076623
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076623
    reference: chr 1
allele count: 6
allele frequency: 5.889628364450203e-5
allele num: 101874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+18C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+18C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+18C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+18C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+18C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 2.75e1
  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: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28923
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

1-34076624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076624
    reference: chr 1
allele count: 6
allele frequency: 5.842941726394516e-5
allele num: 102688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.640+17C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6343+17C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.640+17C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6223+17C>T
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2962+17C>T
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-34076642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076642
    reference: chr 1
allele count: 2
allele frequency: 1.77954941808734e-5
allele num: 112388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.639G>A
  hgvsp: ENST00000373388.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6342G>A
  hgvsp: ENST00000373381.4:c.6342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.639G>A
  hgvsp: ENST00000373377.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6222G>A
  hgvsp: ENST00000241312.4:c.6222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2961G>A
  hgvsp: ENST00000373380.1:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
hgvs: c.6222G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-34076653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076653
    reference: chr 1
allele count: 1
allele frequency: 8.653663095588363e-6
allele num: 115558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.628C>T
  hgvsp: ENST00000373377.1:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6331C>T
  hgvsp: ENST00000373381.4:c.6331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.628C>T
  hgvsp: ENST00000373388.2:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2950C>T
  hgvsp: ENST00000373380.1:c.2950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6211C>T
  hgvsp: ENST00000241312.4:c.6211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu2071Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-34076667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076667
    reference: chr 1
allele count: 122
allele frequency: 1.035161553081727e-3
allele num: 117856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.614G>A
  hgvsp: ENSP00000362486.2:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6317G>A
  hgvsp: ENSP00000362479.4:p.Arg2106Gln
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.614G>A
  hgvsp: ENSP00000362475.1:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2936G>A
  hgvsp: ENSP00000362478.1:p.Arg979Gln
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6197G>A
  hgvsp: ENSP00000241312.4:p.Arg2066Gln
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36172
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg2066Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

1-34076668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076668
    reference: chr 1
allele count: 2
allele frequency: 1.694254782034122e-5
allele num: 118046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.613C>T
  hgvsp: ENSP00000362475.1:p.Arg205Trp
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6316C>T
  hgvsp: ENSP00000362479.4:p.Arg2106Trp
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.613C>T
  hgvsp: ENSP00000362486.2:p.Arg205Trp
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6196C>T
  hgvsp: ENSP00000241312.4:p.Arg2066Trp
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2935C>T
  hgvsp: ENSP00000362478.1:p.Arg979Trp
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg2066Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-34076672-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076672
    reference: chr 1
allele count: 1
allele frequency: 8.437394532568342e-6
allele num: 118520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6312G>C
  hgvsp: ENSP00000362479.4:p.Gln2104His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6192G>C
  hgvsp: ENSP00000241312.4:p.Gln2064His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2931G>C
  hgvsp: ENSP00000362478.1:p.Gln977His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.609G>C
  hgvsp: ENSP00000362475.1:p.Gln203His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.609G>C
  hgvsp: ENSP00000362486.2:p.Gln203His
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2064His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-34076675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076675
    reference: chr 1
allele count: 1
allele frequency: 8.420910805712745e-6
allele num: 118752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2928C>T
  hgvsp: ENST00000373380.1:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6309C>T
  hgvsp: ENST00000373381.4:c.6309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6189C>T
  hgvsp: ENST00000241312.4:c.6189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.606C>T
  hgvsp: ENST00000373388.2:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.606C>T
  hgvsp: ENST00000373377.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser2063Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-34076683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076683
    reference: chr 1
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6181G>A
  hgvsp: ENSP00000241312.4:p.Asp2061Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6301G>A
  hgvsp: ENSP00000362479.4:p.Asp2101Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.598G>A
  hgvsp: ENSP00000362475.1:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2920G>A
  hgvsp: ENSP00000362478.1:p.Asp974Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.598G>A
  hgvsp: ENSP00000362486.2:p.Asp200Asn
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp2061Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-34076684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076684
    reference: chr 1
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6300C>T
  hgvsp: ENST00000373381.4:c.6300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.597C>T
  hgvsp: ENST00000373377.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.597C>T
  hgvsp: ENST00000373388.2:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6180C>T
  hgvsp: ENST00000241312.4:c.6180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2919C>T
  hgvsp: ENST00000373380.1:c.2919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42939
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2060Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-34076685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076685
    reference: chr 1
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6179G>A
  hgvsp: ENSP00000241312.4:p.Ser2060Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.596G>A
  hgvsp: ENSP00000362475.1:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.596G>A
  hgvsp: ENSP00000362486.2:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6299G>A
  hgvsp: ENSP00000362479.4:p.Ser2100Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2918G>A
  hgvsp: ENSP00000362478.1:p.Ser973Asn
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2060Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-34076698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076698
    reference: chr 1
allele count: 6
allele frequency: 5.008598093393659e-5
allele num: 119794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2905G>A
  hgvsp: ENSP00000362478.1:p.Val969Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6286G>A
  hgvsp: ENSP00000362479.4:p.Val2096Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.583G>A
  hgvsp: ENSP00000362486.2:p.Val195Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6166G>A
  hgvsp: ENSP00000241312.4:p.Val2056Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.583G>A
  hgvsp: ENSP00000362475.1:p.Val195Met
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2056Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-34076708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076708
    reference: chr 1
allele count: 2
allele frequency: 1.666388935177471e-5
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6276C>T
  hgvsp: ENST00000373381.4:c.6276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.573C>T
  hgvsp: ENST00000373377.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.573C>T
  hgvsp: ENST00000373388.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6156C>T
  hgvsp: ENST00000241312.4:c.6156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2895C>T
  hgvsp: ENST00000373380.1:c.2895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His2052His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-34076709-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076709
    reference: chr 1
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.572A>C
  hgvsp: ENSP00000362475.1:p.His191Pro
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.572A>C
  hgvsp: ENSP00000362486.2:p.His191Pro
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6275A>C
  hgvsp: ENSP00000362479.4:p.His2092Pro
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6155A>C
  hgvsp: ENSP00000241312.4:p.His2052Pro
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2894A>C
  hgvsp: ENSP00000362478.1:p.His965Pro
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His2052Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

1-34076711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076711
    reference: chr 1
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2892C>T
  hgvsp: ENST00000373380.1:c.2892C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6273C>T
  hgvsp: ENST00000373381.4:c.6273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.570C>T
  hgvsp: ENST00000373377.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6153C>T
  hgvsp: ENST00000241312.4:c.6153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.570C>T
  hgvsp: ENST00000373388.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2051Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

1-34076714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076714
    reference: chr 1
allele count: 4
allele frequency: 3.329781566329249e-5
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.567G>A
  hgvsp: ENST00000373388.2:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6270G>A
  hgvsp: ENST00000373381.4:c.6270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.567G>A
  hgvsp: ENST00000373377.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2889G>A
  hgvsp: ENST00000373380.1:c.2889G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6150G>A
  hgvsp: ENST00000241312.4:c.6150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr2050Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-34076715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076715
    reference: chr 1
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6149C>T
  hgvsp: ENSP00000241312.4:p.Thr2050Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6269C>T
  hgvsp: ENSP00000362479.4:p.Thr2090Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.566C>T
  hgvsp: ENSP00000362475.1:p.Thr189Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2888C>T
  hgvsp: ENSP00000362478.1:p.Thr963Met
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.566C>T
  hgvsp: ENSP00000362486.2:p.Thr189Met
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr2050Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-34076715-G-GTGGAGAGGAGGGAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076730
    reference: chr 1
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: GTGGAGAGGAGGGAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsp: ENSP00000362475.1:p.Ser184_Ser188dup
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsp: ENSP00000362478.1:p.Ser958_Ser962dup
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsp: ENSP00000362486.2:p.Ser184_Ser188dup
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsp: ENSP00000362479.4:p.Ser2085_Ser2089dup
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsp: ENSP00000241312.4:p.Ser2045_Ser2049dup
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser2045_Ser2049dup
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: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-34076720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076720
    reference: chr 1
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6264C>T
  hgvsp: ENST00000373381.4:c.6264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6144C>T
  hgvsp: ENST00000241312.4:c.6144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2883C>T
  hgvsp: ENST00000373380.1:c.2883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.561C>T
  hgvsp: ENST00000373388.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.561C>T
  hgvsp: ENST00000373377.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu2048Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-34076724-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076724
    reference: chr 1
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.557T>A
  hgvsp: ENSP00000362486.2:p.Leu186His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2879T>A
  hgvsp: ENSP00000362478.1:p.Leu960His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6260T>A
  hgvsp: ENSP00000362479.4:p.Leu2087His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.557T>A
  hgvsp: ENSP00000362475.1:p.Leu186His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6140T>A
  hgvsp: ENSP00000241312.4:p.Leu2047His
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu2047His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

1-34076726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076726
    reference: chr 1
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6138C>T
  hgvsp: ENST00000241312.4:c.6138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2877C>T
  hgvsp: ENST00000373380.1:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6258C>T
  hgvsp: ENST00000373381.4:c.6258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.555C>T
  hgvsp: ENST00000373377.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.555C>T
  hgvsp: ENST00000373388.2:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser2046Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-34076727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076727
    reference: chr 1
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.554C>T
  hgvsp: ENSP00000362475.1:p.Ser185Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6257C>T
  hgvsp: ENSP00000362479.4:p.Ser2086Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2876C>T
  hgvsp: ENSP00000362478.1:p.Ser959Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.554C>T
  hgvsp: ENSP00000362486.2:p.Ser185Phe
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6137C>T
  hgvsp: ENSP00000241312.4:p.Ser2046Phe
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser2046Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-34076732-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076732
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076732
    reference: chr 1
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2871A>G
  hgvsp: ENST00000373380.1:c.2871A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.549A>G
  hgvsp: ENST00000373388.2:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6252A>G
  hgvsp: ENST00000373381.4:c.6252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.549A>G
  hgvsp: ENST00000373377.1:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6132A>G
  hgvsp: ENST00000241312.4:c.6132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro2044Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-34076740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076740
    reference: chr 1
allele count: 425
allele frequency: 3.527029494265465e-3
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6244G>A
  hgvsp: ENSP00000362479.4:p.Glu2082Lys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6124G>A
  hgvsp: ENSP00000241312.4:p.Glu2042Lys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.541G>A
  hgvsp: ENSP00000362475.1:p.Glu181Lys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.541G>A
  hgvsp: ENSP00000362486.2:p.Glu181Lys
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2863G>A
  hgvsp: ENSP00000362478.1:p.Glu955Lys
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35243
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu2042Lys
num of homozygotes: 11
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-34076741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076741
    reference: chr 1
allele count: 18
allele frequency: 1.493651979088872e-4
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6123C>T
  hgvsp: ENST00000241312.4:c.6123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.540C>T
  hgvsp: ENST00000373377.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.540C>T
  hgvsp: ENST00000373388.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2862C>T
  hgvsp: ENST00000373380.1:c.2862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6243C>T
  hgvsp: ENST00000373381.4:c.6243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser2041Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-34076742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076742
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6242G>A
  hgvsp: ENSP00000362479.4:p.Ser2081Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2861G>A
  hgvsp: ENSP00000362478.1:p.Ser954Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6122G>A
  hgvsp: ENSP00000241312.4:p.Ser2041Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.539G>A
  hgvsp: ENSP00000362475.1:p.Ser180Asn
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.539G>A
  hgvsp: ENSP00000362486.2:p.Ser180Asn
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser2041Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-34076747-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076747
    reference: chr 1
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.534T>C
  hgvsp: ENST00000373377.1:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6117T>C
  hgvsp: ENST00000241312.4:c.6117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6237T>C
  hgvsp: ENST00000373381.4:c.6237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2856T>C
  hgvsp: ENST00000373380.1:c.2856T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.534T>C
  hgvsp: ENST00000373388.2:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser2039Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-34076755-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076755
    reference: chr 1
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6229A>T
  hgvsp: ENSP00000362479.4:p.Arg2077Ter
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2848A>T
  hgvsp: ENSP00000362478.1:p.Arg950Ter
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6109A>T
  hgvsp: ENSP00000241312.4:p.Arg2037Ter
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.526A>T
  hgvsp: ENSP00000362486.2:p.Arg176Ter
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.526A>T
  hgvsp: ENSP00000362475.1:p.Arg176Ter
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg2037Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-34076762-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076762
    reference: chr 1
allele count: 3
allele frequency: 2.484595507851322e-5
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6222G>C
  hgvsp: ENSP00000362479.4:p.Met2074Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.519G>C
  hgvsp: ENSP00000362475.1:p.Met173Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2841G>C
  hgvsp: ENSP00000362478.1:p.Met947Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6102G>C
  hgvsp: ENSP00000241312.4:p.Met2034Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.519G>C
  hgvsp: ENSP00000362486.2:p.Met173Ile
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met2034Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-34076762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076762
    reference: chr 1
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6222G>A
  hgvsp: ENSP00000362479.4:p.Met2074Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.519G>A
  hgvsp: ENSP00000362486.2:p.Met173Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.519G>A
  hgvsp: ENSP00000362475.1:p.Met173Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2841G>A
  hgvsp: ENSP00000362478.1:p.Met947Ile
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6102G>A
  hgvsp: ENSP00000241312.4:p.Met2034Ile
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met2034Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

1-34076764-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076764
    reference: chr 1
allele count: 5
allele frequency: 4.140581006326808e-5
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6100A>G
  hgvsp: ENSP00000241312.4:p.Met2034Val
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2839A>G
  hgvsp: ENSP00000362478.1:p.Met947Val
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6220A>G
  hgvsp: ENSP00000362479.4:p.Met2074Val
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.517A>G
  hgvsp: ENSP00000362486.2:p.Met173Val
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.517A>G
  hgvsp: ENSP00000362475.1:p.Met173Val
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met2034Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-34076765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076765
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076765
    reference: chr 1
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2838C>T
  hgvsp: ENST00000373380.1:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.516C>T
  hgvsp: ENST00000373377.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6219C>T
  hgvsp: ENST00000373381.4:c.6219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6099C>T
  hgvsp: ENST00000241312.4:c.6099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.516C>T
  hgvsp: ENST00000373388.2:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2033Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-34076766-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076766
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2837G>T
  hgvsp: ENSP00000362478.1:p.Arg946Leu
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.515G>T
  hgvsp: ENSP00000362475.1:p.Arg172Leu
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.515G>T
  hgvsp: ENSP00000362486.2:p.Arg172Leu
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6218G>T
  hgvsp: ENSP00000362479.4:p.Arg2073Leu
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6098G>T
  hgvsp: ENSP00000241312.4:p.Arg2033Leu
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2033Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-34076766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076766
    reference: chr 1
allele count: 6
allele frequency: 4.968944099378882e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2837G>A
  hgvsp: ENSP00000362478.1:p.Arg946His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.515G>A
  hgvsp: ENSP00000362475.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.515G>A
  hgvsp: ENSP00000362486.2:p.Arg172His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6098G>A
  hgvsp: ENSP00000241312.4:p.Arg2033His
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6218G>A
  hgvsp: ENSP00000362479.4:p.Arg2073His
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg2033His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-34076767-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34076767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 34076767
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362486
  ensembl transcript: ENST00000373388
  gene symbol: CSMD2
  hgvsc: ENST00000373388.2:c.514C>A
  hgvsp: ENSP00000362486.2:p.Arg172Ser
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000241312
  ensembl transcript: ENST00000241312
  gene symbol: CSMD2
  hgvsc: ENST00000241312.4:c.6097C>A
  hgvsp: ENSP00000241312.4:p.Arg2033Ser
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362479
  ensembl transcript: ENST00000373381
  gene symbol: CSMD2
  hgvsc: ENST00000373381.4:c.6217C>A
  hgvsp: ENSP00000362479.4:p.Arg2073Ser
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362478
  ensembl transcript: ENST00000373380
  gene symbol: CSMD2
  hgvsc: ENST00000373380.1:c.2836C>A
  hgvsp: ENSP00000362478.1:p.Arg946Ser
  variant of: http://identifiers.org/hgnc/19290
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121904
  ensembl protein: ENSP00000362475
  ensembl transcript: ENST00000373377
  gene symbol: CSMD2
  hgvsc: ENST00000373377.1:c.514C>A
  hgvsp: ENSP00000362475.1:p.Arg172Ser
  variant of: http://identifiers.org/hgnc/19290
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44327
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2033Ser
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 647
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8186
bin: 9.75e1
variant carriers: 370

GenotypeQuality
all individuals: 5169
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1884
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.173792251890723e-5
allele num: 64790
num of homozygotes: 0

African
type: Population
allele count: 364
allele frequency: 3.764997931319818e-2
allele num: 9668
num of homozygotes: 8

Latino
type: Population
allele count: 16
allele frequency: 1.465201465201465e-3
allele num: 10920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

DP
type: SiteQuality
SIO_000300: 1.820984e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.189e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

GenotypeQuality
all individuals: 7932
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35448
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.056766762649116e-4
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.823552e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5286
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.47836227001814e-5
allele num: 15436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.588e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.104e0

DP
type: SiteQuality
SIO_000300: 1.826354e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 1659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7938
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 9.211873080859775e-4
allele num: 9770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65124
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.588e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.826354e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.009009009009009e-5
allele num: 11100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-5
allele num: 65420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 3.877e0

DP
type: SiteQuality
SIO_000300: 1.837972e6

QD
type: SiteQuality
SIO_000300: 1.824e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.955e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.443e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 5424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35344
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.400409626216078e-5
allele num: 15624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.57e0

DP
type: SiteQuality
SIO_000300: 1.840817e6

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7975
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 377
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047108294228777e-5
allele num: 65636
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.922e0

QD
type: SiteQuality
SIO_000300: 9.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.844961e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

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

GenotypeQuality
all individuals: 924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.564403736725192e-5
allele num: 65726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.847593e6

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.898e1

FS
type: SiteQuality
SIO_000300: 6.72e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 35906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1771
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.784439685938615e-4
allele num: 11208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.851615e6

QD
type: SiteQuality
SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

FS
type: SiteQuality
SIO_000300: 1.027e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8042
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 5495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036191401505951e-5
allele num: 65872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.311276982045592e-3
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 2.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 1.854508e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

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

GenotypeQuality
all individuals: 1813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.164415463437354e-3
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

DP
type: SiteQuality
SIO_000300: 1.85638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

FS
type: SiteQuality
SIO_000300: 1.234e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 2642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 5.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.860097e6

QD
type: SiteQuality
SIO_000300: 1.126e1

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

GenotypeQuality
all individuals: 2667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8077
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.863329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.863329e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5614
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 33
allele frequency: 2.904418236226016e-3
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 86
allele frequency: 9.983747387973066e-3
allele num: 8614
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.409090909090909e-3
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.313649443262855e-3
allele num: 15986
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: 5
allele frequency: 4.981071926678622e-4
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.415531869923609e-4
allele num: 66238
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.87383e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.786e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

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

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.875173e6

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 25

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 105

GenotypeQuality
all individuals: 1185
bin: 6.75e1
variant carriers: 403

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 54

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 189

GenotypeQuality
all individuals: 666
bin: 9.25e1
variant carriers: 610

European (Finnish)
type: Population
allele count: 4404
allele frequency: 6.676773802304427e-1
allele num: 6596
num of homozygotes: 1469

Other
type: Population
allele count: 524
allele frequency: 5.848214285714286e-1
allele num: 896
num of homozygotes: 156

East Asian
type: Population
allele count: 4988
allele frequency: 5.781177561427909e-1
allele num: 8628
num of homozygotes: 1445

Latino
type: Population
allele count: 8100
allele frequency: 7.039805318964019e-1
allele num: 11506
num of homozygotes: 2865

European (Non-Finnish)
type: Population
allele count: 37843
allele frequency: 5.695130026486876e-1
allele num: 66448
num of homozygotes: 10819

African
type: Population
allele count: 3919
allele frequency: 3.826401093536418e-1
allele num: 10242
num of homozygotes: 751

South Asian
type: Population
allele count: 9326
allele frequency: 5.703277886497065e-1
allele num: 16352
num of homozygotes: 2712

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

QD
type: SiteQuality
SIO_000300: 2.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 3.031816e6

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1961
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.480278422273782e-4
allele num: 8620
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 1.756e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.666245e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.492839678658749e-4
allele num: 11452
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506795648374167e-4
allele num: 66366
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.728e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

DP
type: SiteQuality
SIO_000300: 1.664393e6

QD
type: SiteQuality
SIO_000300: 1.397e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 6.738e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.66272e6

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
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: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 1.861e0

DP
type: SiteQuality
SIO_000300: 1.659092e6

QD
type: SiteQuality
SIO_000300: 7.68e0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.376750700280112e-4
allele num: 11424
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.656642e6

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 2.457e1

DP
type: SiteQuality
SIO_000300: 1.654053e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 1810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.805917576611483e-5
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65992
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.028467595396729e-4
allele num: 9906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 4.805e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.641428e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551253412757508e-5
allele num: 64464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 1.569894e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 298
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.555693839452396e-4
allele num: 6428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

FS
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 1.569894e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.224e0

DP
type: SiteQuality
SIO_000300: 1.48824e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.366e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.40910801656003e-5
allele num: 10628
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 8.48e0

FS
type: SiteQuality
SIO_000300: 5.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.296e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.43172e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60054
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.165e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.581e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.23127e6

QD
type: SiteQuality
SIO_000300: 1.492e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.374730021598272e-5
allele num: 59264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14338
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.131e0

DP
type: SiteQuality
SIO_000300: 1.158092e6

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.554012774229381e-4
allele num: 7202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.974e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.472e0

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.047519e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55496
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.231223836493475e-4
allele num: 8122
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.711539175295995e-5
allele num: 53886
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 6372
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African
type: Population
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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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European (Non-Finnish)
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allele frequency: 1.855287569573284e-5
allele num: 53900
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 7244
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European (Non-Finnish)
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allele num: 54098
num of homozygotes: 0

East Asian
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South Asian
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.844610049435549e-5
allele num: 54212
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.195e1

DP
type: SiteQuality
SIO_000300: 1.192596e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.043e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
all individuals: 4955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.813828629471087e-5
allele num: 55132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.2419e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 1.909e0

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1071
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.488209850704618e-5
allele num: 57336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.48e-1

DP
type: SiteQuality
SIO_000300: 1.323346e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

QD
type: SiteQuality
SIO_000300: 1.863e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.123e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
all individuals: 460
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13424
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.440507058484587e-4
allele num: 6942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.003205128205128e-4
allele num: 4992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.961606738835323e-5
allele num: 57458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.333178e6

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 642
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.116424708226587e-4
allele num: 7026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.346194e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.408847562693716e-4
allele num: 7098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.457323728443571e-4
allele num: 9162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.354655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.882312456985548e-5
allele num: 14530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587301587301587e-5
allele num: 63000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 8.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.479463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.976057462090982e-5
allele num: 10024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 1.516686e6

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

FS
type: SiteQuality
SIO_000300: 4.581e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 5386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 121

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 106
allele frequency: 1.623376623376623e-3
allele num: 65296
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.560619547801318e-4
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.453278265358802e-4
allele num: 15496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

QD
type: SiteQuality
SIO_000300: 1.346e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 1.552967e6

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.430868167202572e-5
allele num: 15550
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.55173e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42823
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.631e1

VQSLOD
type: SiteQuality
SIO_000300: -4.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.556223e6

FS
type: SiteQuality
SIO_000300: 3.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

FS
type: SiteQuality
SIO_000300: 5.358e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.11e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.559242e6

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42802
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.326711375427053e-5
allele num: 15806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.564991e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

QD
type: SiteQuality
SIO_000300: 1.462e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 1.747e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.566439e6

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

DP
type: SiteQuality
SIO_000300: 1.566992e6

FS
type: SiteQuality
SIO_000300: 3.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544352884149297e-5
allele num: 66016
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.574176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51267622678042e-5
allele num: 66108
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.22975330176925e-5
allele num: 16052
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 1.665e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.577923e6

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 43365
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-4
allele num: 6564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

FS
type: SiteQuality
SIO_000300: 4.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 1.578014e6

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.220452848967405e-5
allele num: 16076
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 1.57904e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.515e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: -6.126e-1

FS
type: SiteQuality
SIO_000300: 3.399e0

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023248783142365e-5
allele num: 66154
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.59e0

QD
type: SiteQuality
SIO_000300: 1.369e1

DP
type: SiteQuality
SIO_000300: 1.580179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511213201958532e-5
allele num: 66172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.661e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.58076e6

QD
type: SiteQuality
SIO_000300: 5.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.777e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.661e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.58076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 5.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

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

GenotypeQuality
all individuals: 5791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.615e1

DP
type: SiteQuality
SIO_000300: 1.582137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5790
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1709
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 1.5832e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 2.901e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.599e1

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

GenotypeQuality
all individuals: 5808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.872e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
type: SiteQuality
SIO_000300: 1.583744e6

VQSLOD
type: SiteQuality
SIO_000300: -8.887e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019414837404511e-5
allele num: 66238
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

DP
type: SiteQuality
SIO_000300: 1.583846e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5839
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variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

FS
type: SiteQuality
SIO_000300: 4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.44e1

DP
type: SiteQuality
SIO_000300: 1.585229e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.153e0

GenotypeQuality
all individuals: 1672
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 9.25e1
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GenotypeQuality
all individuals: 3927
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variant carriers: 412

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.543753771876886e-5
allele num: 66280
num of homozygotes: 0

African
type: Population
allele count: 401
allele frequency: 3.872151409810737e-2
allele num: 10356
num of homozygotes: 11

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.38864780420066e-3
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.615622e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.81e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

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

GenotypeQuality
all individuals: 3612
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 1691
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variant carriers: 0

GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.232134056185313e-4
allele num: 16232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.112187320841254e-4
allele num: 66282
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.589576e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
all individuals: 43991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.589362e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1707
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1153
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013046491307361e-5
allele num: 66378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.592279e6

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

FS
type: SiteQuality
SIO_000300: 4.401e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44318
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.593152e6

FS
type: SiteQuality
SIO_000300: 2.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 2.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.424e1

DP
type: SiteQuality
SIO_000300: 1.593152e6

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

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.59361e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 1896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 654
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.401999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 1.019e0

DP
type: SiteQuality
SIO_000300: 1.593405e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
all individuals: 1892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.594191e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225039813793948e-4
allele num: 16326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024822267743102e-5
allele num: 66392
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.594191e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1