7-2020062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020062
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020062
    reference: chr 7
allele count: 385
allele frequency: 5.939708105773087e-3
allele num: 64818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+26C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+26C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+26C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+26C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+26C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+26C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 21566
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 1.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 2.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20855
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9757
  bin: 6.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-2020074-TCTGGGGGACGTACCTGAGCGTGTCCGCCTCCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020074
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020040
    reference: chr 7
allele count: 2
allele frequency: 2.608718336681189e-5
allele num: 76666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20459
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TCTGGGGGACGTACCTGAGCGTGTCCGCCTCCTCC
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-2020076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020076
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020076
    reference: chr 7
allele count: 1
allele frequency: 1.266688622602792e-5
allele num: 78946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+12A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+12A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+12A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+12A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+12A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+12A>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

7-2020078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020078
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020078
    reference: chr 7
allele count: 16
allele frequency: 2.003405789842733e-4
allele num: 79864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+10C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+10C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+10C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+10C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+10C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+10C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18801
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19181
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-2020081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020081
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020081
    reference: chr 7
allele count: 9
allele frequency: 1.096972356296621e-4
allele num: 82044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+7C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+7C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+7C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+7C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+7C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+7C>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1505+7C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-2020082-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020082
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020082
    reference: chr 7
allele count: 1
allele frequency: 1.206621941213379e-5
allele num: 82876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+6T>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+6T>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+6T>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+6T>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+6T>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+6T>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1505+6T>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

7-2020083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020083
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020083
    reference: chr 7
allele count: 18
allele frequency: 2.158118120998489e-4
allele num: 83406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+5G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+5G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+5G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+5G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+5G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+5G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1505+5G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

7-2020083-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020083
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020081
    reference: chr 7
allele count: 3
allele frequency: 3.596863534997482e-5
allele num: 83406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+3_158+4delAC
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+3_1505+4delAC
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+3_1505+4delAC
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+3_1229+4delAC
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+3_1505+4delAC
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+3_506+4delAC
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1505+3_1505+4delAC
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: CGT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

7-2020084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020084
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020084
    reference: chr 7
allele count: 20
allele frequency: 2.492895248541656e-4
allele num: 80228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+4C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+4C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+4C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+4C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+4C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+4C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17831
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1505+4C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-2020084-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020084
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020084
    reference: chr 7
allele count: 1
allele frequency: 1.246447624270828e-5
allele num: 80228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+4C>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+4C>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+4C>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+4C>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+4C>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+4C>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17831
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1505+4C>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

7-2020085-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020085
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020085
    reference: chr 7
allele count: 16
allele frequency: 1.965360520820538e-4
allele num: 81410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158+3A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505+3A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506+3A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505+3A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229+3A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505+3A>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22125
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22857
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17509
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1505+3A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-2020088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020088
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020088
    reference: chr 7
allele count: 1
allele frequency: 1.129841370271614e-5
allele num: 88508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1229G>A
  hgvsp: ENSP00000384155.1:p.Arg410Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.158G>A
  hgvsp: ENSP00000394886.1:p.Arg53Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1505G>A
  hgvsp: ENSP00000265854.7:p.Arg502Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1505G>A
  hgvsp: ENSP00000385334.1:p.Arg502Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.506G>A
  hgvsp: ENSP00000414877.1:p.Arg169Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1505G>A
  hgvsp: ENSP00000382562.2:p.Arg502Lys
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg502Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-2020090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020090
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020090
    reference: chr 7
allele count: 1
allele frequency: 1.109508487739931e-5
allele num: 90130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1227C>T
  hgvsp: ENST00000402746.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1503C>T
  hgvsp: ENST00000406869.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.504C>T
  hgvsp: ENST00000438959.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1503C>T
  hgvsp: ENST00000265854.7:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.156C>T
  hgvsp: ENST00000450235.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1503C>T
  hgvsp: ENST00000399654.2:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26425
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1503C>T
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

7-2020090-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020090
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020090
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 90130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1503C>G
  hgvsp: ENST00000265854.7:c.1503C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1227C>G
  hgvsp: ENST00000402746.1:c.1227C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1503C>G
  hgvsp: ENST00000406869.1:c.1503C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.504C>G
  hgvsp: ENST00000438959.1:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1503C>G
  hgvsp: ENST00000399654.2:c.1503C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.156C>G
  hgvsp: ENST00000450235.1:c.156C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1503C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-2020091-A-AGCGTATCCGCCTCCTCCCCTGCAGGACACACCTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020091
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020126
    reference: chr 7
allele count: 1
allele frequency: 1.130198915009042e-5
allele num: 88480
alternate allele: AGCGTATCCGCCTCCTCCCCTGCAGGACACACCTGG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsp: ENSP00000382562.2:p.Leu501ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsp: ENSP00000265854.7:p.Leu501ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsp: ENSP00000414877.1:p.Leu168ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsp: ENSP00000384155.1:p.Leu409ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsp: ENSP00000385334.1:p.Leu501ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsp: ENSP00000394886.1:p.Leu52ProfsTer15
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu501ProfsTer15
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

7-2020091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020091
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020091
    reference: chr 7
allele count: 3
allele frequency: 3.390596745027125e-5
allele num: 88480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1226T>C
  hgvsp: ENSP00000384155.1:p.Leu409Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.503T>C
  hgvsp: ENSP00000414877.1:p.Leu168Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1502T>C
  hgvsp: ENSP00000382562.2:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1502T>C
  hgvsp: ENSP00000385334.1:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1502T>C
  hgvsp: ENSP00000265854.7:p.Leu501Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.155T>C
  hgvsp: ENSP00000394886.1:p.Leu52Pro
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu501Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-2020094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020094
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020094
    reference: chr 7
allele count: 149
allele frequency: 1.599192890567982e-3
allele num: 93172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.152C>T
  hgvsp: ENSP00000394886.1:p.Thr51Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1499C>T
  hgvsp: ENSP00000385334.1:p.Thr500Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1499C>T
  hgvsp: ENSP00000382562.2:p.Thr500Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.500C>T
  hgvsp: ENSP00000414877.1:p.Thr167Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1223C>T
  hgvsp: ENSP00000384155.1:p.Thr408Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1499C>T
  hgvsp: ENSP00000265854.7:p.Thr500Met
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28555
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr500Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-2020096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020096
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020096
    reference: chr 7
allele count: 49
allele frequency: 5.240978030675765e-4
allele num: 93494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.498C>T
  hgvsp: ENST00000438959.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1221C>T
  hgvsp: ENST00000402746.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1497C>T
  hgvsp: ENST00000406869.1:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1497C>T
  hgvsp: ENST00000265854.7:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.150C>T
  hgvsp: ENST00000450235.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1497C>T
  hgvsp: ENST00000399654.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29259
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31982
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 2.75e1
  variant carriers: 4
hgvs: p.Asp499Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-2020100-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020100
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020100
    reference: chr 7
allele count: 1
allele frequency: 1.029505631395804e-5
allele num: 97134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1493C>G
  hgvsp: ENSP00000385334.1:p.Ala498Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1217C>G
  hgvsp: ENSP00000384155.1:p.Ala406Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.146C>G
  hgvsp: ENSP00000394886.1:p.Ala49Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1493C>G
  hgvsp: ENSP00000382562.2:p.Ala498Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1493C>G
  hgvsp: ENSP00000265854.7:p.Ala498Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.494C>G
  hgvsp: ENSP00000414877.1:p.Ala165Gly
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34110
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala498Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-2020105-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020105
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020105
    reference: chr 7
allele count: 1
allele frequency: 9.94253216409155e-6
allele num: 100578
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1488G>T
  hgvsp: ENSP00000385334.1:p.Glu496Asp
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.489G>T
  hgvsp: ENSP00000414877.1:p.Glu163Asp
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1212G>T
  hgvsp: ENSP00000384155.1:p.Glu404Asp
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1488G>T
  hgvsp: ENSP00000265854.7:p.Glu496Asp
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.141G>T
  hgvsp: ENSP00000394886.1:p.Glu47Asp
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1488G>T
  hgvsp: ENSP00000382562.2:p.Glu496Asp
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu496Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

7-2020106-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020106
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020107
    reference: chr 7
allele count: 22
allele frequency: 2.186704834605598e-4
allele num: 100608
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.139dupG
  hgvsp: ENSP00000394886.1:p.Glu47GlyfsTer39
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1486dupG
  hgvsp: ENSP00000265854.7:p.Glu496GlyfsTer39
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1486dupG
  hgvsp: ENSP00000382562.2:p.Glu496GlyfsTer39
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1486dupG
  hgvsp: ENSP00000385334.1:p.Glu496GlyfsTer39
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1210dupG
  hgvsp: ENSP00000384155.1:p.Glu404GlyfsTer39
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.487dupG
  hgvsp: ENSP00000414877.1:p.Glu163GlyfsTer?
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33410
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37765
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Glu496GlyfsTer39
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

7-2020107-C-CCCCTGCAGGACACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020121
    reference: chr 7
allele count: 11
allele frequency: 1.089907456948655e-4
allele num: 100926
alternate allele: CCCCTGCAGGACACA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsp: ENSP00000394886.1:p.Glu47CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsp: ENSP00000265854.7:p.Glu496CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsp: ENSP00000385334.1:p.Glu496CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsp: ENSP00000382562.2:p.Glu496CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsp: ENSP00000384155.1:p.Glu404CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsp: ENSP00000414877.1:p.Glu163CysfsTer13
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33628
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu496CysfsTer13
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-2020107-C-CCCCTGCAGGACACACCTGGGCGTGTCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020135
    reference: chr 7
allele count: 1
allele frequency: 9.90824960862414e-6
allele num: 100926
alternate allele: CCCCTGCAGGACACACCTGGGCGTGTCCG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsp: ENSP00000382562.2:p.Glu496ArgfsTer48
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsp: ENSP00000384155.1:p.Glu404ArgfsTer48
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsp: ENSP00000414877.1:p.Glu163ArgfsTer?
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsp: ENSP00000394886.1:p.Glu47ArgfsTer48
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsp: ENSP00000385334.1:p.Glu496ArgfsTer48
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsp: ENSP00000265854.7:p.Glu496ArgfsTer48
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu496ArgfsTer48
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-2020109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020109
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020109
    reference: chr 7
allele count: 21
allele frequency: 2.052665532813325e-4
allele num: 102306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1484G>T
  hgvsp: ENSP00000265854.7:p.Arg495Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1484G>T
  hgvsp: ENSP00000382562.2:p.Arg495Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1484G>T
  hgvsp: ENSP00000385334.1:p.Arg495Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.137G>T
  hgvsp: ENSP00000394886.1:p.Arg46Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.485G>T
  hgvsp: ENSP00000414877.1:p.Arg162Met
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1208G>T
  hgvsp: ENSP00000384155.1:p.Arg403Met
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34151
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38652
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Arg495Met
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

7-2020109-C-CCTGCAGGACACACCTGGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020109
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020129
    reference: chr 7
allele count: 2
allele frequency: 1.954919555060309e-5
allele num: 102306
alternate allele: CCTGCAGGACACACCTGGGCG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsp: ENSP00000414877.1:p.Arg162ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsp: ENSP00000384155.1:p.Arg403ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsp: ENSP00000382562.2:p.Arg495ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsp: ENSP00000394886.1:p.Arg46ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsp: ENSP00000385334.1:p.Arg495ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsp: ENSP00000265854.7:p.Arg495ThrfsTer16
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg495ThrfsTer16
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

7-2020112-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020112
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020112
    reference: chr 7
allele count: 14
allele frequency: 1.360544217687075e-4
allele num: 102900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1481C>G
  hgvsp: ENSP00000382562.2:p.Ser494Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1205C>G
  hgvsp: ENSP00000384155.1:p.Ser402Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.134C>G
  hgvsp: ENSP00000394886.1:p.Ser45Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1481C>G
  hgvsp: ENSP00000385334.1:p.Ser494Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.482C>G
  hgvsp: ENSP00000414877.1:p.Ser161Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1481C>G
  hgvsp: ENSP00000265854.7:p.Ser494Cys
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34731
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser494Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-2020113-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020113
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020113
    reference: chr 7
allele count: 1
allele frequency: 9.655119144170239e-6
allele num: 103572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1480T>G
  hgvsp: ENSP00000265854.7:p.Ser494Ala
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.133T>G
  hgvsp: ENSP00000394886.1:p.Ser45Ala
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1480T>G
  hgvsp: ENSP00000382562.2:p.Ser494Ala
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1480T>G
  hgvsp: ENSP00000385334.1:p.Ser494Ala
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.481T>G
  hgvsp: ENSP00000414877.1:p.Ser161Ala
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1204T>G
  hgvsp: ENSP00000384155.1:p.Ser402Ala
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser494Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

7-2020115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020115
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020115
    reference: chr 7
allele count: 5
allele frequency: 4.817791139118537e-5
allele num: 103782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1478T>C
  hgvsp: ENSP00000265854.7:p.Phe493Ser
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.479T>C
  hgvsp: ENSP00000414877.1:p.Phe160Ser
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1478T>C
  hgvsp: ENSP00000382562.2:p.Phe493Ser
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1478T>C
  hgvsp: ENSP00000385334.1:p.Phe493Ser
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1202T>C
  hgvsp: ENSP00000384155.1:p.Phe401Ser
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.131T>C
  hgvsp: ENSP00000394886.1:p.Phe44Ser
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe493Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-2020117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020117
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020117
    reference: chr 7
allele count: 1
allele frequency: 9.544716999140975e-6
allele num: 104770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1200G>A
  hgvsp: ENST00000402746.1:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.477G>A
  hgvsp: ENST00000438959.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1476G>A
  hgvsp: ENST00000406869.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1476G>A
  hgvsp: ENST00000265854.7:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1476G>A
  hgvsp: ENST00000399654.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.129G>A
  hgvsp: ENST00000450235.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu492Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-2020118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020118
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020118
    reference: chr 7
allele count: 3
allele frequency: 2.856816363844132e-5
allele num: 105012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.476T>C
  hgvsp: ENSP00000414877.1:p.Leu159Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1199T>C
  hgvsp: ENSP00000384155.1:p.Leu400Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1475T>C
  hgvsp: ENSP00000382562.2:p.Leu492Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.128T>C
  hgvsp: ENSP00000394886.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1475T>C
  hgvsp: ENSP00000265854.7:p.Leu492Pro
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1475T>C
  hgvsp: ENSP00000385334.1:p.Leu492Pro
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu492Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-2020126-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020126
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020125
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 105768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1190delA
  hgvsp: ENSP00000384155.1:p.Gln397ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1466delA
  hgvsp: ENSP00000385334.1:p.Gln489ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.119delA
  hgvsp: ENSP00000394886.1:p.Gln40ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1466delA
  hgvsp: ENSP00000265854.7:p.Gln489ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.236delA
  hgvsp: ENSP00000393037.2:p.Gln79ArgfsTer?
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1466delA
  hgvsp: ENSP00000382562.2:p.Gln489ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.467delA
  hgvsp: ENSP00000414877.1:p.Gln156ArgfsTer15
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln489ArgfsTer15
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-2020126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020126
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020126
    reference: chr 7
allele count: 1
allele frequency: 9.454655472354587e-6
allele num: 105768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1467G>A
  hgvsp: ENST00000406869.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1467G>A
  hgvsp: ENST00000265854.7:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1467G>A
  hgvsp: ENST00000399654.2:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.237G>A
  hgvsp: ENST00000444373.2:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.468G>A
  hgvsp: ENST00000438959.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.120G>A
  hgvsp: ENST00000450235.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1191G>A
  hgvsp: ENST00000402746.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8557
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln489Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

7-2020127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020127
    reference: chr 7
allele count: 1
allele frequency: 9.440196356084207e-6
allele num: 105930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.467A>G
  hgvsp: ENSP00000414877.1:p.Gln156Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.119A>G
  hgvsp: ENSP00000394886.1:p.Gln40Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1466A>G
  hgvsp: ENSP00000382562.2:p.Gln489Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1190A>G
  hgvsp: ENSP00000384155.1:p.Gln397Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1466A>G
  hgvsp: ENSP00000385334.1:p.Gln489Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1466A>G
  hgvsp: ENSP00000265854.7:p.Gln489Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.236A>G
  hgvsp: ENSP00000393037.2:p.Gln79Arg
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln489Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-2020129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020129
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020129
    reference: chr 7
allele count: 1
allele frequency: 9.418501704748809e-6
allele num: 106174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1188A>G
  hgvsp: ENST00000402746.1:c.1188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1464A>G
  hgvsp: ENST00000265854.7:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1464A>G
  hgvsp: ENST00000406869.1:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.117A>G
  hgvsp: ENST00000450235.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.465A>G
  hgvsp: ENST00000438959.1:c.465A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1464A>G
  hgvsp: ENST00000399654.2:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.234A>G
  hgvsp: ENST00000444373.2:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu488Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

7-2020131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020131
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020131
    reference: chr 7
allele count: 6
allele frequency: 5.658989304510215e-5
allele num: 106026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1462G>A
  hgvsp: ENSP00000385334.1:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1186G>A
  hgvsp: ENSP00000384155.1:p.Glu396Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.463G>A
  hgvsp: ENSP00000414877.1:p.Glu155Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1462G>A
  hgvsp: ENSP00000265854.7:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.232G>A
  hgvsp: ENSP00000393037.2:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1462G>A
  hgvsp: ENSP00000382562.2:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.115G>A
  hgvsp: ENSP00000394886.1:p.Glu39Lys
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35785
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu488Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-2020132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020132
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020132
    reference: chr 7
allele count: 28
allele frequency: 2.64285579446133e-4
allele num: 105946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1461C>T
  hgvsp: ENST00000265854.7:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1185C>T
  hgvsp: ENST00000402746.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1461C>T
  hgvsp: ENST00000406869.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1461C>T
  hgvsp: ENST00000399654.2:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.114C>T
  hgvsp: ENST00000450235.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.231C>T
  hgvsp: ENST00000444373.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.462C>T
  hgvsp: ENST00000438959.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35492
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8687
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala487Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-2020139-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020139
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020139
    reference: chr 7
allele count: 2
allele frequency: 1.878710453144961e-5
allele num: 106456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1454G>T
  hgvsp: ENSP00000382562.2:p.Ser485Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.224G>T
  hgvsp: ENSP00000393037.2:p.Ser75Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.107G>T
  hgvsp: ENSP00000394886.1:p.Ser36Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1454G>T
  hgvsp: ENSP00000265854.7:p.Ser485Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1178G>T
  hgvsp: ENSP00000384155.1:p.Ser393Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1454G>T
  hgvsp: ENSP00000385334.1:p.Ser485Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.455G>T
  hgvsp: ENSP00000414877.1:p.Ser152Ile
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser485Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-2020139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020139
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020139
    reference: chr 7
allele count: 1
allele frequency: 9.393552265724806e-6
allele num: 106456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1454G>A
  hgvsp: ENSP00000385334.1:p.Ser485Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1454G>A
  hgvsp: ENSP00000382562.2:p.Ser485Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1454G>A
  hgvsp: ENSP00000265854.7:p.Ser485Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.224G>A
  hgvsp: ENSP00000393037.2:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.107G>A
  hgvsp: ENSP00000394886.1:p.Ser36Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1178G>A
  hgvsp: ENSP00000384155.1:p.Ser393Asn
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.455G>A
  hgvsp: ENSP00000414877.1:p.Ser152Asn
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser485Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-2020140-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
allele count: 1
allele frequency: 9.387379606856542e-6
allele num: 106526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1453A>T
  hgvsp: ENSP00000385334.1:p.Ser485Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.454A>T
  hgvsp: ENSP00000414877.1:p.Ser152Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1453A>T
  hgvsp: ENSP00000265854.7:p.Ser485Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1453A>T
  hgvsp: ENSP00000382562.2:p.Ser485Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1177A>T
  hgvsp: ENSP00000384155.1:p.Ser393Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.223A>T
  hgvsp: ENSP00000393037.2:p.Ser75Cys
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.106A>T
  hgvsp: ENSP00000394886.1:p.Ser36Cys
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42105
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser485Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

7-2020140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
allele count: 1
allele frequency: 9.387379606856542e-6
allele num: 106526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1453A>G
  hgvsp: ENSP00000265854.7:p.Ser485Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.223A>G
  hgvsp: ENSP00000393037.2:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1177A>G
  hgvsp: ENSP00000384155.1:p.Ser393Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1453A>G
  hgvsp: ENSP00000382562.2:p.Ser485Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.454A>G
  hgvsp: ENSP00000414877.1:p.Ser152Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.106A>G
  hgvsp: ENSP00000394886.1:p.Ser36Gly
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1453A>G
  hgvsp: ENSP00000385334.1:p.Ser485Gly
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser485Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

7-2020140-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020140
    reference: chr 7
allele count: 1
allele frequency: 9.387379606856542e-6
allele num: 106526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.223A>C
  hgvsp: ENSP00000393037.2:p.Ser75Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1177A>C
  hgvsp: ENSP00000384155.1:p.Ser393Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1453A>C
  hgvsp: ENSP00000265854.7:p.Ser485Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.454A>C
  hgvsp: ENSP00000414877.1:p.Ser152Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1453A>C
  hgvsp: ENSP00000385334.1:p.Ser485Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.106A>C
  hgvsp: ENSP00000394886.1:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1453A>C
  hgvsp: ENSP00000382562.2:p.Ser485Arg
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser485Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-2020144-CTGAGACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020144
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020137
    reference: chr 7
allele count: 1
allele frequency: 9.412119044481674e-6
allele num: 106246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.443_449delAGTCTCA
  hgvsp: ENSP00000414877.1:p.Lys148SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1166_1172delAGTCTCA
  hgvsp: ENSP00000384155.1:p.Lys389SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1442_1448delAGTCTCA
  hgvsp: ENSP00000265854.7:p.Lys481SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1442_1448delAGTCTCA
  hgvsp: ENSP00000385334.1:p.Lys481SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.95_101delAGTCTCA
  hgvsp: ENSP00000394886.1:p.Lys32SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.212_218delAGTCTCA
  hgvsp: ENSP00000393037.2:p.Lys71SerfsTer?
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1442_1448delAGTCTCA
  hgvsp: ENSP00000382562.2:p.Lys481SerfsTer21
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42072
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys481SerfsTer21
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: CTGAGACT
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/7-2020156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020156
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020156
    reference: chr 7
allele count: 25
allele frequency: 2.43427458617332e-4
allele num: 102700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.438G>T
  hgvsp: ENSP00000414877.1:p.Met146Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1437G>T
  hgvsp: ENSP00000385334.1:p.Met479Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1161G>T
  hgvsp: ENSP00000384155.1:p.Met387Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.90G>T
  hgvsp: ENSP00000394886.1:p.Met30Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1437G>T
  hgvsp: ENSP00000265854.7:p.Met479Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.207G>T
  hgvsp: ENSP00000393037.2:p.Met69Ile
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1437G>T
  hgvsp: ENSP00000382562.2:p.Met479Ile
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30273
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met479Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

7-2020158-T-TCTTCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020158
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020164
    reference: chr 7
allele count: 1
allele frequency: 9.796238244514107e-6
allele num: 102080
alternate allele: TCTTCAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1153_1158dupCTGAAG
  hgvsp: ENSP00000384155.1:p.Leu385_Lys386dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1429_1434dupCTGAAG
  hgvsp: ENSP00000265854.7:p.Leu477_Lys478dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.82_87dupCTGAAG
  hgvsp: ENSP00000394886.1:p.Leu28_Lys29dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.199_204dupCTGAAG
  hgvsp: ENSP00000393037.2:p.Leu67_Lys68dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.430_435dupCTGAAG
  hgvsp: ENSP00000414877.1:p.Leu144_Lys145dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1429_1434dupCTGAAG
  hgvsp: ENSP00000382562.2:p.Leu477_Lys478dup
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1429_1434dupCTGAAG
  hgvsp: ENSP00000385334.1:p.Leu477_Lys478dup
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13692
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu477_Lys478dup
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-2020169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020169
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020169
    reference: chr 7
allele count: 6
allele frequency: 6.307423837857157e-5
allele num: 95126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1148T>C
  hgvsp: ENSP00000384155.1:p.Met383Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.194T>C
  hgvsp: ENSP00000393037.2:p.Met65Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1424T>C
  hgvsp: ENSP00000385334.1:p.Met475Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1424T>C
  hgvsp: ENSP00000265854.7:p.Met475Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.77T>C
  hgvsp: ENSP00000394886.1:p.Met26Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1424T>C
  hgvsp: ENSP00000382562.2:p.Met475Thr
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.425T>C
  hgvsp: ENSP00000414877.1:p.Met142Thr
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met475Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-2020176-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020176
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020176
    reference: chr 7
allele count: 1
allele frequency: 1.093302429317998e-5
allele num: 91466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70C>G
  hgvsp: ENSP00000394886.1:p.Leu24Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417C>G
  hgvsp: ENSP00000385334.1:p.Leu473Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417C>G
  hgvsp: ENSP00000382562.2:p.Leu473Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187C>G
  hgvsp: ENSP00000393037.2:p.Leu63Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417C>G
  hgvsp: ENSP00000265854.7:p.Leu473Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418C>G
  hgvsp: ENSP00000414877.1:p.Leu140Val
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141C>G
  hgvsp: ENSP00000384155.1:p.Leu381Val
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu473Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-2020177-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020177
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020177
    reference: chr 7
allele count: 1
allele frequency: 1.101637032630489e-5
allele num: 90774
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-1G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-1G>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1417-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-2020180-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020180
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020180
    reference: chr 7
allele count: 1
allele frequency: 1.12173015659353e-5
allele num: 89148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-4C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-4C>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1417-4C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-2020181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020181
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020181
    reference: chr 7
allele count: 1
allele frequency: 1.129586119645762e-5
allele num: 88528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-5C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-5C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1417-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

7-2020193-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020193
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020193
    reference: chr 7
allele count: 1
allele frequency: 1.234750827283054e-5
allele num: 80988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-17C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-17C>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

7-2020197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020197
    reference: chr 7
allele count: 1
allele frequency: 1.276878287961592e-5
allele num: 78316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-21C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-21C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

7-2020205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020205
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020205
    reference: chr 7
allele count: 1
allele frequency: 1.577336824505505e-5
allele num: 63398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-29C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-29C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26115
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

7-2020212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020212
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020212
    reference: chr 7
allele count: 4
allele frequency: 7.231703789412785e-5
allele num: 55312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-36G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-36G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17355
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-2020213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020213
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020213
    reference: chr 7
allele count: 20
allele frequency: 3.625552896816765e-4
allele num: 55164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-37C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-37C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22611
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

7-2020216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020216
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020216
    reference: chr 7
allele count: 1
allele frequency: 1.968969047806568e-5
allele num: 50788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-40G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-40G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24495
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-2020217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020217
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020217
    reference: chr 7
allele count: 1
allele frequency: 2.099252666050886e-5
allele num: 47636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-41C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-41C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

7-2020224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020224
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020224
    reference: chr 7
allele count: 1
allele frequency: 2.261829367592509e-5
allele num: 44212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-48C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-48C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-2020225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020225
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020225
    reference: chr 7
allele count: 5
allele frequency: 1.127904353710805e-4
allele num: 44330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.70-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-49C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27432
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-2020277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020277
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020277
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-101G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-101G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+29G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-101G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-101G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-101G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-101G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34450
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-2020278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020278
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-102C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-102C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+28C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-102C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-102C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-102C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-102C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/7-2020281-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020281
    reference: chr 7
allele count: 1
allele frequency: 5.931901767706727e-5
allele num: 16858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-105G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-105G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-105G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-105G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-105G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+25G>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-105G>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-2020288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020288
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020288
    reference: chr 7
allele count: 1
allele frequency: 6.022645145748013e-5
allele num: 16604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-112C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+18C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-112C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-112C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-112C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-112C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-112C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

7-2020296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020296
    reference: chr 7
allele count: 1
allele frequency: 6.04814322003145e-5
allele num: 16534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-120G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-120G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-120G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-120G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-120G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+10G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-120G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28323
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

7-2020297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020297
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-121C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.69+9C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-121C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-121C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-121C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-121C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-121C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28389
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

7-2020315-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020315
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020315
    reference: chr 7
allele count: 4
allele frequency: 2.415458937198068e-4
allele num: 16560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.60C>G
  hgvsp: ENST00000450235.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-139C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-139C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-139C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-139C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-139C>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-139C>G
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser20Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-2020347-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020348
    reference: chr 7
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-172dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-172dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-172dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-172dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-172dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.27dupA
  hgvsp: ENSP00000394886.1:p.Glu10ArgfsTer76
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-172dupA
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu10ArgfsTer76
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

7-2020354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020354
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020354
    reference: chr 7
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-178A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.21A>G
  hgvsp: ENST00000450235.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-178A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-178A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-178A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-178A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-178A>G
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9160
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala7Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-2020360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020360
    reference: chr 7
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-184G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-184G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-184G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-184G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-184G>A
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.15G>A
  hgvsp: ENST00000450235.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-184G>A
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu5Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-2020373-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020374
    reference: chr 7
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-198dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-198dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-198dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-198dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.1dupA
  hgvsp: ENSP00000394886.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-198dupA
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-198dupA
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-2020419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020419
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020419
    reference: chr 7
allele count: 1
allele frequency: 6.302785831337451e-5
allele num: 15866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-243A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-243A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-243A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-243A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-243A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.-45A>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-243A>G
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-2020423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2020423
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2020423
    reference: chr 7
allele count: 803
allele frequency: 5.095177664974619e-2
allele num: 15760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1141-247C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000394886
  ensembl transcript: ENST00000450235
  gene symbol: MAD1L1
  hgvsc: ENST00000450235.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.187-247C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1417-247C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.418-247C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1417-247C>T
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1417-247C>T
  variant of: http://identifiers.org/hgnc/6762
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 28
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/7-2041654-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2041654
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2041654
    reference: chr 7
allele count: 4
allele frequency: 3.328174662606294e-5
allele num: 120186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000393037
  ensembl transcript: ENST00000444373
  gene symbol: MAD1L1
  hgvsc: ENST00000444373.2:c.186+46T>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000265854
  ensembl transcript: ENST00000265854
  gene symbol: MAD1L1
  hgvsc: ENST00000265854.7:c.1416+46T>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000385334
  ensembl transcript: ENST00000406869
  gene symbol: MAD1L1
  hgvsc: ENST00000406869.1:c.1416+46T>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000414877
  ensembl transcript: ENST00000438959
  gene symbol: MAD1L1
  hgvsc: ENST00000438959.1:c.417+46T>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000382562
  ensembl transcript: ENST00000399654
  gene symbol: MAD1L1
  hgvsc: ENST00000399654.2:c.1416+46T>G
  variant of: http://identifiers.org/hgnc/6762
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002822
  ensembl protein: ENSP00000384155
  ensembl transcript: ENST00000402746
  gene symbol: MAD1L1
  hgvsc: ENST00000402746.1:c.1140+46T>G
  variant of: http://identifiers.org/hgnc/6762
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50678
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 428
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 3608
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1151
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 19

GenotypeQuality
all individuals: 536
bin: 9.75e1
variant carriers: 155

GenotypeQuality
all individuals: 1068
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 457
bin: 5.25e1
variant carriers: 25

African
type: Population
allele count: 2
allele frequency: 3.454231433506045e-4
allele num: 5790
num of homozygotes: 0

South Asian
type: Population
allele count: 112
allele frequency: 1.090130426318863e-2
allele num: 10274
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 6.122448979591836e-3
allele num: 490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.921598770176787e-4
allele num: 5204
num of homozygotes: 0

Latino
type: Population
allele count: 112
allele frequency: 2.348008385744235e-2
allele num: 4770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 150
allele frequency: 4.235134677282737e-3
allele num: 35418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.740947075208914e-3
allele num: 2872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

FS
type: SiteQuality
SIO_000300: 5.841e0

DP
type: SiteQuality
SIO_000300: 8.24518e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
all individuals: 1966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.816027740319784e-5
allele num: 41528
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 9.19033e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 18211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4974
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.156606851549755e-5
allele num: 12260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.36409e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 2598
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.296386323124291e-3
allele num: 12342
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 9.53771e5

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 588
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.028123309897242e-4
allele num: 44376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 9.763e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
all individuals: 296
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 828
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.745744096650192e-4
allele num: 3642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.294e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.84087e5

QD
type: SiteQuality
SIO_000300: 8.4e0

GenotypeQuality
all individuals: 18360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 20807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.993885418051309e-4
allele num: 45138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.358289620092195e-4
allele num: 12582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 9.91985e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

GenotypeQuality
all individuals: 3586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18360
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.589572405023049e-4
allele num: 12582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.91985e5

QD
type: SiteQuality
SIO_000300: 1.012e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

GenotypeQuality
all individuals: 3465
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21462
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1218
bin: 7.5e0
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 7.024445068839561e-4
allele num: 7118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.266648533478399e-4
allele num: 44118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.217985490129914e-4
allele num: 11854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.894e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 1.2724e1

DP
type: SiteQuality
SIO_000300: 1.01555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

QD
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

GenotypeQuality
all individuals: 1760
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.266648533478399e-5
allele num: 44118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.894e0

FS
type: SiteQuality
SIO_000300: 1.2724e1

DP
type: SiteQuality
SIO_000300: 1.01555e6

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 4.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 790
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1691
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.888950124001103e-4
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.338807568725455e-4
allele num: 44816
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.178505766337958e-4
allele num: 11966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.704e0

QD
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: -3.616e0

FS
type: SiteQuality
SIO_000300: 1.3357e1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

DP
type: SiteQuality
SIO_000300: 1.026215e6

GenotypeQuality
all individuals: 26811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.07546386617409e-5
allele num: 48182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.062708e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 1.191e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 1.333e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.101321585903084e-4
allele num: 9080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.084002e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.712e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
all individuals: 603
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

DP
type: SiteQuality
SIO_000300: 1.084002e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.712e0

QD
type: SiteQuality
SIO_000300: 1.153e1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

GenotypeQuality
all individuals: 1638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48794
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.419647927314026e-4
allele num: 7044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.094701e6

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.893e0

FS
type: SiteQuality
SIO_000300: 1.7388e1

VQSLOD
type: SiteQuality
SIO_000300: -3.883e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

QD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 934
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.049432307250891e-5
allele num: 48794
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.575795776867318e-4
allele num: 12692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 1.7388e1

QD
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -3.883e0

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

DP
type: SiteQuality
SIO_000300: 1.094701e6

MQ
type: SiteQuality
SIO_000300: 5.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.893e0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.75e1
variant carriers: 143

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31145
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2821
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13324
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.067484662576687e-3
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 129
allele frequency: 1.765188834154351e-2
allele num: 7308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.738225629791895e-4
allele num: 51128
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.304778303917348e-4
allele num: 9292
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.115729e6

GenotypeQuality
all individuals: 13484
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 489
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 637
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 913
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1374
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2776
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 3.234850118611171e-4
allele num: 9274
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.675368898978433e-4
allele num: 7048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.351403529093787e-4
allele num: 51798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 4.988597491448118e-3
allele num: 7016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

MQ
type: SiteQuality
SIO_000300: 5.654e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

FS
type: SiteQuality
SIO_000300: 7.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 1.136706e6

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 735
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.32922896511287e-5
allele num: 13644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.887e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

DP
type: SiteQuality
SIO_000300: 1.16743e6

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

QD
type: SiteQuality
SIO_000300: 4.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.683e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

GenotypeQuality
all individuals: 3237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 37401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.163323782234957e-5
allele num: 13960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.204599e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

FS
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 7.12e0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 904
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 428
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.172314864622557e-5
allele num: 55770
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.016942315449778e-4
allele num: 9916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.086049543676662e-3
allele num: 7670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13962
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.564e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.003e0

DP
type: SiteQuality
SIO_000300: 1.211242e6

FS
type: SiteQuality
SIO_000300: 6.228e0

QD
type: SiteQuality
SIO_000300: 9.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.291655902867476e-4
allele num: 7742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785841845846132e-5
allele num: 55996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.175548589341693e-3
allele num: 7656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

FS
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

QD
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

DP
type: SiteQuality
SIO_000300: 1.216121e6

MQRankSum
type: SiteQuality
SIO_000300: -1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.597e0

GenotypeQuality
all individuals: 3178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55996
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.306165099268548e-4
allele num: 7656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.597e0

MQRankSum
type: SiteQuality
SIO_000300: -1.188e0

QD
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 1.216121e6

FS
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.75e1
variant carriers: 18

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.533818644427168e-4
allele num: 56596
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.41643059490085e-3
allele num: 706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.22545e6

FS
type: SiteQuality
SIO_000300: 5.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 7.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.519526329050139e-4
allele num: 7938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 5.334e0

QD
type: SiteQuality
SIO_000300: 7.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.22545e6

GenotypeQuality
all individuals: 480
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39584
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1083
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.500052500787512e-5
allele num: 57142
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.977848101265823e-4
allele num: 10112
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.283697047496791e-3
allele num: 7790
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.238878e6

VQSLOD
type: SiteQuality
SIO_000300: -3.087e0

FS
type: SiteQuality
SIO_000300: 5.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.595e0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.742160278745645e-5
allele num: 57400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 1.241163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.456e1

FS
type: SiteQuality
SIO_000300: 9.047000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

VQSLOD
type: SiteQuality
SIO_000300: -9.274e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 9052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 5.116398055768739e-4
allele num: 7818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.502e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.836e0

MQ
type: SiteQuality
SIO_000300: 5.445e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.248459e6

MQRankSum
type: SiteQuality
SIO_000300: -1.525e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.72271223814774e-5
allele num: 58048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 5.734e0

QD
type: SiteQuality
SIO_000300: 9.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.25302e6

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 428
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.151983513652757e-5
allele num: 58230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.255576e6

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.063e0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8557
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.264531e6

GenotypeQuality
all individuals: 911
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58778
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.24285359184688e-4
allele num: 8046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.264531e6

GenotypeQuality
all individuals: 907
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58854
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.705e1

FS
type: SiteQuality
SIO_000300: 2.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.829e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 1.264861e6

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 888
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58932
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.266437e6

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58878
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.139643990616807e-4
allele num: 14494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.269435e6

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 1214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.710623422023694e-4
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.549372854277848e-4
allele num: 58838
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.902263942573165e-5
allele num: 14488
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.477700693756194e-4
allele num: 8072
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.268489e6

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59032
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.931620629708325e-4
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.271748e6

FS
type: SiteQuality
SIO_000300: 4.359e0

QD
type: SiteQuality
SIO_000300: 9.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 472
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.87757909215956e-5
allele num: 14540
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 4.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 1.271748e6

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69284940411701e-5
allele num: 59072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.27165e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 2.642e0

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42105
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.871907641561298e-5
allele num: 14552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 2.642e0

DP
type: SiteQuality
SIO_000300: 1.27165e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.820830298616169e-4
allele num: 5492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 1.27165e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.642e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 671
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.697274177670661e-5
allele num: 58918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.267452e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.471e0

QD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.712e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.041e0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.688951442646024e-3
allele num: 14210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.760811381884773e-5
allele num: 56792
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.217569e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 9.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.070135746606335e-5
allele num: 14144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56394
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5280
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.205e-1

FS
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

MQRankSum
type: SiteQuality
SIO_000300: -1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.203664e6

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.429351838181013e-4
allele num: 13546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

FS
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

DP
type: SiteQuality
SIO_000300: 1.071843e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2158
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.554011179936546e-5
allele num: 13238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.005367e6

GenotypeQuality
all individuals: 2631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.012558364192562e-5
allele num: 49688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 9.94139e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.888e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

GenotypeQuality
all individuals: 2952
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6750
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 3.757e0

QD
type: SiteQuality
SIO_000300: 8.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 9.59319e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

GenotypeQuality
all individuals: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28537
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.067910169982216e-5
allele num: 48358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.47946e5

FS
type: SiteQuality
SIO_000300: 1.2725e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

GenotypeQuality
all individuals: 175
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.549907005579665e-4
allele num: 6452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.636e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 8.2623e5

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.358935648235516e-5
allele num: 42392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.689e-1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

DP
type: SiteQuality
SIO_000300: 7.92688e5

FS
type: SiteQuality
SIO_000300: 6.662e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

GenotypeQuality
all individuals: 375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 564
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.997781641585227e-5
allele num: 33358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

QD
type: SiteQuality
SIO_000300: 7.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.532e-1

DP
type: SiteQuality
SIO_000300: 6.90427e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 10443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1836
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.708119218910585e-4
allele num: 3892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.594536304816679e-4
allele num: 2782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

DP
type: SiteQuality
SIO_000300: 6.49011e5

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4634
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3647
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10488
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.670520231213873e-4
allele num: 10380
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.111635109453087e-4
allele num: 28414
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.586652871184687e-4
allele num: 3866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.173913043478261e-4
allele num: 4600
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.435006435006435e-4
allele num: 4662
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 3.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

DP
type: SiteQuality
SIO_000300: 6.46819e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10969
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.866079022655223e-5
allele num: 25866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 6.29087e5

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 11118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5867
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.720348204570185e-4
allele num: 3676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.19659e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

FS
type: SiteQuality
SIO_000300: 6.021e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 6.85e0

GenotypeQuality
all individuals: 1152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21916
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

FS
type: SiteQuality
SIO_000300: 1.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

MQRankSum
type: SiteQuality
SIO_000300: -3.064e0

VQSLOD
type: SiteQuality
SIO_000300: -3.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

DP
type: SiteQuality
SIO_000300: 6.08973e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.27956597063919e-4
allele num: 21934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.293e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 6.09252e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 969
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 696
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.37745e5

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.901e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.34424e5

QD
type: SiteQuality
SIO_000300: 6.41e0

GenotypeQuality
all individuals: 623
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.309586170770037e-4
allele num: 7636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.54e-1

FS
type: SiteQuality
SIO_000300: 5.869e0

QD
type: SiteQuality
SIO_000300: 1.47e1

VQSLOD
type: SiteQuality
SIO_000300: -1.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.160000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.32939e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.976190476190476e-3
allele num: 336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 3.10033e5

FS
type: SiteQuality
SIO_000300: 5.136e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.450000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.788e0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.968503937007874e-3
allele num: 508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.27e-2

DP
type: SiteQuality
SIO_000300: 3.057e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26219
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.210000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.064e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

DP
type: SiteQuality
SIO_000300: 3.06128e5

GenotypeQuality
all individuals: 21164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 745
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.201680672268907e-3
allele num: 952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 2.89654e5

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.876172607879925e-4
allele num: 5330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

FS
type: SiteQuality
SIO_000300: 7.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.515e0

QD
type: SiteQuality
SIO_000300: 1.455e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 2.60855e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.02e1

VQSLOD
type: SiteQuality
SIO_000300: -1.335e0

GenotypeQuality
all individuals: 797
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.309586170770037e-4
allele num: 7636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 7.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.04e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 2.55955e5

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.878992859827133e-4
allele num: 5322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.642e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

FS
type: SiteQuality
SIO_000300: 3.768e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.50385e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.539e0

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.316135825217162e-4
allele num: 7598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.46886e5

FS
type: SiteQuality
SIO_000300: 1.1082e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

VQSLOD
type: SiteQuality
SIO_000300: -8.623e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

QD
type: SiteQuality
SIO_000300: 8.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

GenotypeQuality
all individuals: 1711
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3048
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.385809312638581e-4
allele num: 7216
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

QD
type: SiteQuality
SIO_000300: 1.502e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

FS
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 2.0369e5

GenotypeQuality
all individuals: 2902
bin: 7.5e0
variant carriers: 12

GenotypeQuality
all individuals: 189
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 779
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 685
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1154
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1219
bin: 9.75e1
variant carriers: 727

Other
type: Population
allele count: 9
allele frequency: 4.545454545454546e-2
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 9.523809523809523e-2
allele num: 294
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 2.049180327868853e-3
allele num: 488
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 186
allele frequency: 3.617269544924154e-2
allele num: 5142
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 44
allele frequency: 2.774274905422447e-2
allele num: 1586
num of homozygotes: 1

South Asian
type: Population
allele count: 529
allele frequency: 7.402742793171005e-2
allele num: 7146
num of homozygotes: 22

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.79e-2

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 2.04313e5

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1