7-48567938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567938
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 26912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3147T>C
  hgvsp: ENSP00000396789.1:p.Met1050Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1670T>C
  hgvsp: ENSP00000391042.1:p.Met557Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1541T>C
  hgvsp: ENSP00000442634.1:p.Met514Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14351T>C
  hgvsp: ENSP00000411096.1:p.Met4784Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28075
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Met4784Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-48567948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567948
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567948
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 24876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+7T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+7T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+7T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+7T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31366
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12401
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
hgvs: c.14354+7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

7-48567949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567949
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567949
    reference: chr 7
allele count: 1
allele frequency: 4.047599773334413e-5
allele num: 24706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+8A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+8A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+8A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+8A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31603
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11364
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
hgvs: c.14354+8A>G
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-48567952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567952
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567952
    reference: chr 7
allele count: 26
allele frequency: 1.078838174273859e-3
allele num: 24100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+11G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+11G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+11G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+11G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32321
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31598
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-48567961-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567961
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 22264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+20A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+20A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+20A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+20A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-48567967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567967
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567967
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 21194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+26G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+26G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+26G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+26G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34068
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30879
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

7-48567991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48567991
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48567991
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 18010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14354+50A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3150+50A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1544+50A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1673+50A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

7-48619796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619796
    reference: chr 7
allele count: 1
allele frequency: 1.181306998062657e-5
allele num: 84652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-24A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-24A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-24A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-24A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

7-48619801-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619801
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619801
    reference: chr 7
allele count: 1
allele frequency: 1.16319646388275e-5
allele num: 85970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-19G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-19G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-19G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-19G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6692
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

7-48619807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619807
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619807
    reference: chr 7
allele count: 1
allele frequency: 1.142230547813771e-5
allele num: 87548
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-13C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-13C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-13C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-13C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-48619808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619808
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619808
    reference: chr 7
allele count: 1
allele frequency: 1.135486215197348e-5
allele num: 88068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-12T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-12T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-12T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-12T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 270
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
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genotype quality: GenotypeQuality
  all individuals: 367
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

7-48619812-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619812
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619812
    reference: chr 7
allele count: 1
allele frequency: 1.124985937675779e-5
allele num: 88890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-8C>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-8C>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-8C>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-8C>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17712
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3022
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 2.75e1
  variant carriers: 0
hgvs: c.14355-8C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-48619818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619818
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619818
    reference: chr 7
allele count: 2
allele frequency: 2.200994849672052e-5
allele num: 90868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3151-2A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14355-2A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1674-2A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1545-2A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 2
hgvs: c.14355-2A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-48619823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619823
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619823
    reference: chr 7
allele count: 3
allele frequency: 3.256409699759026e-5
allele num: 92126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1548C>T
  hgvsp: ENST00000544596.1:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14358C>T
  hgvsp: ENST00000435803.1:c.14358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1677C>T
  hgvsp: ENST00000411975.1:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3154C>T
  hgvsp: ENST00000453246.1:c.3154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12730
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp4786Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-48619824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619824
    reference: chr 7
allele count: 5
allele frequency: 5.395722271383248e-5
allele num: 92666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1549G>A
  hgvsp: ENSP00000442634.1:p.Ala517Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14359G>A
  hgvsp: ENSP00000411096.1:p.Ala4787Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3155G>A
  hgvsp: ENSP00000396789.1:p.Ala1053Thr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1678G>A
  hgvsp: ENSP00000391042.1:p.Ala560Thr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala4787Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

7-48619826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619826
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619826
    reference: chr 7
allele count: 27
allele frequency: 2.883506343713956e-4
allele num: 93636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14361C>T
  hgvsp: ENST00000435803.1:c.14361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1680C>T
  hgvsp: ENST00000411975.1:c.1680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3157C>T
  hgvsp: ENST00000453246.1:c.3157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1551C>T
  hgvsp: ENST00000544596.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22693
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15906
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala4787Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

7-48619827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619827
    reference: chr 7
allele count: 16
allele frequency: 1.698009084348601e-4
allele num: 94228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1681G>A
  hgvsp: ENSP00000391042.1:p.Val561Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1552G>A
  hgvsp: ENSP00000442634.1:p.Val518Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3158G>A
  hgvsp: ENSP00000396789.1:p.Val1054Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14362G>A
  hgvsp: ENSP00000411096.1:p.Val4788Met
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val4788Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

7-48619831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619831
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619831
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 95766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14366A>G
  hgvsp: ENSP00000411096.1:p.Asp4789Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1556A>G
  hgvsp: ENSP00000442634.1:p.Asp519Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3162A>G
  hgvsp: ENSP00000396789.1:p.Asp1055Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1685A>G
  hgvsp: ENSP00000391042.1:p.Asp562Gly
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11963
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24852
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp4789Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-48619837-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619837
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619837
    reference: chr 7
allele count: 27
allele frequency: 2.778978570987463e-4
allele num: 97158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1562C>A
  hgvsp: ENSP00000442634.1:p.Ser521Tyr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14372C>A
  hgvsp: ENSP00000411096.1:p.Ser4791Tyr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3168C>A
  hgvsp: ENSP00000396789.1:p.Ser1057Tyr
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1691C>A
  hgvsp: ENSP00000391042.1:p.Ser564Tyr
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23290
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser4791Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-48619849-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619849
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619849
    reference: chr 7
allele count: 1
allele frequency: 1.027875997039717e-5
allele num: 97288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3180C>A
  hgvsp: ENSP00000396789.1:p.Thr1061Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14384C>A
  hgvsp: ENSP00000411096.1:p.Thr4795Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1574C>A
  hgvsp: ENSP00000442634.1:p.Thr525Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1703C>A
  hgvsp: ENSP00000391042.1:p.Thr568Lys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19542
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr4795Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

7-48619850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619850
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619850
    reference: chr 7
allele count: 7
allele frequency: 7.172866072343477e-5
allele num: 97590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1704G>A
  hgvsp: ENST00000411975.1:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3181G>A
  hgvsp: ENST00000453246.1:c.3181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14385G>A
  hgvsp: ENST00000435803.1:c.14385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1575G>A
  hgvsp: ENST00000544596.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr4795Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

7-48619850-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619850
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619850
    reference: chr 7
allele count: 1
allele frequency: 1.024695153191925e-5
allele num: 97590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3181G>C
  hgvsp: ENST00000453246.1:c.3181G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14385G>C
  hgvsp: ENST00000435803.1:c.14385G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1704G>C
  hgvsp: ENST00000411975.1:c.1704G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1575G>C
  hgvsp: ENST00000544596.1:c.1575G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr4795Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-48619854-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619854
    reference: chr 7
allele count: 1
allele frequency: 1.014137070766485e-5
allele num: 98606
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14389G>C
  hgvsp: ENSP00000411096.1:p.Gly4797Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1579G>C
  hgvsp: ENSP00000442634.1:p.Gly527Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3185G>C
  hgvsp: ENSP00000396789.1:p.Gly1063Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1708G>C
  hgvsp: ENSP00000391042.1:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly4797Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

7-48619856-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619856
    reference: chr 7
allele count: 6
allele frequency: 6.252735571812669e-5
allele num: 95958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3187C>G
  hgvsp: ENST00000453246.1:c.3187C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14391C>G
  hgvsp: ENST00000435803.1:c.14391C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1710C>G
  hgvsp: ENST00000411975.1:c.1710C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1581C>G
  hgvsp: ENST00000544596.1:c.1581C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4797Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-48619856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619856
    reference: chr 7
allele count: 8
allele frequency: 8.336980762416891e-5
allele num: 95958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3187C>T
  hgvsp: ENST00000453246.1:c.3187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1581C>T
  hgvsp: ENST00000544596.1:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1710C>T
  hgvsp: ENST00000411975.1:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14391C>T
  hgvsp: ENST00000435803.1:c.14391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly4797Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-48619857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619857
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619857
    reference: chr 7
allele count: 2
allele frequency: 2.030209517622219e-5
allele num: 98512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3188G>A
  hgvsp: ENSP00000396789.1:p.Val1064Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1582G>A
  hgvsp: ENSP00000442634.1:p.Val528Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1711G>A
  hgvsp: ENSP00000391042.1:p.Val571Met
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14392G>A
  hgvsp: ENSP00000411096.1:p.Val4798Met
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val4798Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-48619858-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619858
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619858
    reference: chr 7
allele count: 4
allele frequency: 4.0551500405515e-5
allele num: 98640
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14393T>G
  hgvsp: ENSP00000411096.1:p.Val4798Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3189T>G
  hgvsp: ENSP00000396789.1:p.Val1064Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1583T>G
  hgvsp: ENSP00000442634.1:p.Val528Gly
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1712T>G
  hgvsp: ENSP00000391042.1:p.Val571Gly
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val4798Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-48619868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619868
    reference: chr 7
allele count: 1
allele frequency: 9.976057462090981e-6
allele num: 100240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1722C>T
  hgvsp: ENST00000411975.1:c.1722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3199C>T
  hgvsp: ENST00000453246.1:c.3199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14403C>T
  hgvsp: ENST00000435803.1:c.14403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1593C>T
  hgvsp: ENST00000544596.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly4801Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-48619871-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619871
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619871
    reference: chr 7
allele count: 241
allele frequency: 2.43473692718015e-3
allele num: 98984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3202C>A
  hgvsp: ENSP00000396789.1:p.Tyr1068Ter
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14406C>A
  hgvsp: ENSP00000411096.1:p.Tyr4802Ter
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1596C>A
  hgvsp: ENSP00000442634.1:p.Tyr532Ter
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1725C>A
  hgvsp: ENSP00000391042.1:p.Tyr575Ter
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 23518
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13220
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 19
hgvs: p.Tyr4802Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

7-48619895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619895
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619895
    reference: chr 7
allele count: 5
allele frequency: 4.824299029351035e-5
allele num: 103642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1749C>T
  hgvsp: ENST00000411975.1:c.1749C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1620C>T
  hgvsp: ENST00000544596.1:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14430C>T
  hgvsp: ENST00000435803.1:c.14430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3226C>T
  hgvsp: ENST00000453246.1:c.3226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp4810Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48619896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619896
    reference: chr 7
allele count: 2
allele frequency: 1.92474256568184e-5
allele num: 103910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14431G>A
  hgvsp: ENSP00000411096.1:p.Glu4811Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3227G>A
  hgvsp: ENSP00000396789.1:p.Glu1077Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1750G>A
  hgvsp: ENSP00000391042.1:p.Glu584Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1621G>A
  hgvsp: ENSP00000442634.1:p.Glu541Lys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu4811Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-48619900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619900
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619900
    reference: chr 7
allele count: 1
allele frequency: 9.556757583287142e-6
allele num: 104638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3231T>C
  hgvsp: ENSP00000396789.1:p.Leu1078Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1754T>C
  hgvsp: ENSP00000391042.1:p.Leu585Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1625T>C
  hgvsp: ENSP00000442634.1:p.Leu542Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14435T>C
  hgvsp: ENSP00000411096.1:p.Leu4812Pro
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu4812Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

7-48619902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619902
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619902
    reference: chr 7
allele count: 1
allele frequency: 9.535069987413708e-6
allele num: 104876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1627C>T
  hgvsp: ENST00000544596.1:c.1627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3233C>T
  hgvsp: ENST00000453246.1:c.3233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1756C>T
  hgvsp: ENST00000411975.1:c.1756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14437C>T
  hgvsp: ENST00000435803.1:c.14437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34125
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu4813Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

7-48619903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619903
    reference: chr 7
allele count: 2
allele frequency: 1.904217842521185e-5
allele num: 105030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1757T>C
  hgvsp: ENSP00000391042.1:p.Leu586Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3234T>C
  hgvsp: ENSP00000396789.1:p.Leu1079Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14438T>C
  hgvsp: ENSP00000411096.1:p.Leu4813Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1628T>C
  hgvsp: ENSP00000442634.1:p.Leu543Pro
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu4813Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-48619920-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619920
    reference: chr 7
allele count: 1
allele frequency: 9.44929508258684e-6
allele num: 105828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3251C>G
  hgvsp: ENSP00000396789.1:p.Leu1085Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1774C>G
  hgvsp: ENSP00000391042.1:p.Leu592Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14455C>G
  hgvsp: ENSP00000411096.1:p.Leu4819Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1645C>G
  hgvsp: ENSP00000442634.1:p.Leu549Val
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1379
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 981
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4819Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48619921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619921
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619921
    reference: chr 7
allele count: 1
allele frequency: 9.455728280192141e-6
allele num: 105756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1646T>C
  hgvsp: ENSP00000442634.1:p.Leu549Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3252T>C
  hgvsp: ENSP00000396789.1:p.Leu1085Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14456T>C
  hgvsp: ENSP00000411096.1:p.Leu4819Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1775T>C
  hgvsp: ENSP00000391042.1:p.Leu592Pro
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4819Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

7-48619925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619925
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619925
    reference: chr 7
allele count: 1
allele frequency: 9.489286595433756e-6
allele num: 105382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14460T>C
  hgvsp: ENST00000435803.1:c.14460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1650T>C
  hgvsp: ENST00000544596.1:c.1650T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3256T>C
  hgvsp: ENST00000453246.1:c.3256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1779T>C
  hgvsp: ENST00000411975.1:c.1779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr4820Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-48619932-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619932
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619932
    reference: chr 7
allele count: 1
allele frequency: 9.589198726554409e-6
allele num: 104284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3263T>C
  hgvsp: ENSP00000396789.1:p.Cys1089Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14467T>C
  hgvsp: ENSP00000411096.1:p.Cys4823Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1657T>C
  hgvsp: ENSP00000442634.1:p.Cys553Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1786T>C
  hgvsp: ENSP00000391042.1:p.Cys596Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35556
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys4823Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-48619941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619941
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619941
    reference: chr 7
allele count: 8
allele frequency: 7.7949917178213e-5
allele num: 102630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3272C>T
  hgvsp: ENSP00000396789.1:p.Arg1092Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14476C>T
  hgvsp: ENSP00000411096.1:p.Arg4826Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1666C>T
  hgvsp: ENSP00000442634.1:p.Arg556Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1795C>T
  hgvsp: ENSP00000391042.1:p.Arg599Cys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 668
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genotype quality: GenotypeQuality
  all individuals: 33923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg4826Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

7-48619942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619942
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619942
    reference: chr 7
allele count: 1
allele frequency: 9.740322989110319e-6
allele num: 102666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14477G>A
  hgvsp: ENSP00000411096.1:p.Arg4826His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3273G>A
  hgvsp: ENSP00000396789.1:p.Arg1092His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1796G>A
  hgvsp: ENSP00000391042.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1667G>A
  hgvsp: ENSP00000442634.1:p.Arg556His
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13197
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg4826His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

7-48619943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619943
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619943
    reference: chr 7
allele count: 4
allele frequency: 3.911215410188716e-5
allele num: 102270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1797C>T
  hgvsp: ENST00000411975.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14478C>T
  hgvsp: ENST00000435803.1:c.14478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1668C>T
  hgvsp: ENST00000544596.1:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3274C>T
  hgvsp: ENST00000453246.1:c.3274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29068
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg4826Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

7-48619943-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619943
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619943
    reference: chr 7
allele count: 3
allele frequency: 2.933411557641537e-5
allele num: 102270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1797C>G
  hgvsp: ENST00000411975.1:c.1797C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3274C>G
  hgvsp: ENST00000453246.1:c.3274C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14478C>G
  hgvsp: ENST00000435803.1:c.14478C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1668C>G
  hgvsp: ENST00000544596.1:c.1668C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29068
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg4826Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-48619944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619944
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619944
    reference: chr 7
allele count: 1
allele frequency: 9.863878477017164e-6
allele num: 101380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3275G>A
  hgvsp: ENSP00000396789.1:p.Gly1093Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1669G>A
  hgvsp: ENSP00000442634.1:p.Gly557Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14479G>A
  hgvsp: ENSP00000411096.1:p.Gly4827Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1798G>A
  hgvsp: ENSP00000391042.1:p.Gly600Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly4827Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-48619946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619946
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619946
    reference: chr 7
allele count: 5
allele frequency: 4.926787931340283e-5
allele num: 101486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3277G>A
  hgvsp: ENST00000453246.1:c.3277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14481G>A
  hgvsp: ENST00000435803.1:c.14481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1671G>A
  hgvsp: ENST00000544596.1:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1800G>A
  hgvsp: ENST00000411975.1:c.1800G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly4827Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

7-48619947-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619947
    reference: chr 7
allele count: 16
allele frequency: 1.588183911696975e-4
allele num: 100744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1801A>T
  hgvsp: ENSP00000391042.1:p.Ile601Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1672A>T
  hgvsp: ENSP00000442634.1:p.Ile558Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3278A>T
  hgvsp: ENSP00000396789.1:p.Ile1094Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14482A>T
  hgvsp: ENSP00000411096.1:p.Ile4828Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27357
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile4828Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48619959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619959
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619959
    reference: chr 7
allele count: 1
allele frequency: 1.035239554432896e-5
allele num: 96596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3290T>C
  hgvsp: ENSP00000396789.1:p.Cys1098Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1684T>C
  hgvsp: ENSP00000442634.1:p.Cys562Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14494T>C
  hgvsp: ENSP00000411096.1:p.Cys4832Arg
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1813T>C
  hgvsp: ENSP00000391042.1:p.Cys605Arg
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys4832Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-48619964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619964
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619964
    reference: chr 7
allele count: 2
allele frequency: 2.128655966622675e-5
allele num: 93956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3295C>T
  hgvsp: ENST00000453246.1:c.3295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14499C>T
  hgvsp: ENST00000435803.1:c.14499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1689C>T
  hgvsp: ENST00000544596.1:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1818C>T
  hgvsp: ENST00000411975.1:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 21445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile4833Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

7-48619968-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619968
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619968
    reference: chr 7
allele count: 2
allele frequency: 2.172307424946779e-5
allele num: 92068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14503G>C
  hgvsp: ENSP00000411096.1:p.Glu4835Gln
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1693G>C
  hgvsp: ENSP00000442634.1:p.Glu565Gln
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3299G>C
  hgvsp: ENSP00000396789.1:p.Glu1101Gln
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1822G>C
  hgvsp: ENSP00000391042.1:p.Glu608Gln
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu4835Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

7-48619975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619975
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619975
    reference: chr 7
allele count: 1
allele frequency: 1.122032224765495e-5
allele num: 89124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+5A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+5A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+5A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+5A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
hgvs: c.14505+5A>G
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-48619977-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619977
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619977
    reference: chr 7
allele count: 1
allele frequency: 1.136208698813798e-5
allele num: 88012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+7C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+7C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+7C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+7C>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
hgvs: c.14505+7C>A
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-48619983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619983
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619983
    reference: chr 7
allele count: 1
allele frequency: 1.171536352773027e-5
allele num: 85358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+13G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+13G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+13G>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+13G>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4488
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12937
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 474
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 601
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 273
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-48619987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48619987
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48619987
    reference: chr 7
allele count: 3
allele frequency: 3.584743332377402e-5
allele num: 83688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+17T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+17T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+17T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+17T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16141
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
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genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1220
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genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 263
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

7-48620005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48620005
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48620005
    reference: chr 7
allele count: 2
allele frequency: 2.675943270002676e-5
allele num: 74740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+35C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+35C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+35C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+35C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23654
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-48620017-GCTTGGTGACCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48620017
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48620006
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 65990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21949
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GCTTGGTGACCA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

7-48620019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48620019
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48620019
    reference: chr 7
allele count: 1
allele frequency: 1.533177971298908e-5
allele num: 65224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1824+49T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1695+49T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3301+49T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14505+49T>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8362
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-48626704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626704
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626704
    reference: chr 7
allele count: 1
allele frequency: 9.068814161860195e-6
allele num: 110268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-46C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-46C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-46C>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-46C>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-48626713-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626713
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626713
    reference: chr 7
allele count: 5
allele frequency: 4.527427153697097e-5
allele num: 110438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-37G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-37G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-37G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-37G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

7-48626714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626714
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626714
    reference: chr 7
allele count: 1
allele frequency: 9.035872413481521e-6
allele num: 110670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-36A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-36A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-36A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-36A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48626715-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626715
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626715
    reference: chr 7
allele count: 1
allele frequency: 9.030976248532467e-6
allele num: 110730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-35A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-35A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-35A>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-35A>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-48626721-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626721
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626721
    reference: chr 7
allele count: 2
allele frequency: 1.804793531619983e-5
allele num: 110816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-29G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-29G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-29G>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-29G>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1007
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genotype quality: GenotypeQuality
  all individuals: 1320
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-48626722-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626722
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626722
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 110860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-28T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-28T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-28T>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-28T>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

7-48626730-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626730
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626730
    reference: chr 7
allele count: 2
allele frequency: 1.800439307190955e-5
allele num: 111084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-20T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-20T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-20T>A
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-20T>A
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 86
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genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-48626730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626730
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626730
    reference: chr 7
allele count: 2
allele frequency: 1.800439307190955e-5
allele num: 111084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-20T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-20T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-20T>C
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-20T>C
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27437
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 888
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-48626735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626735
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626735
    reference: chr 7
allele count: 4
allele frequency: 3.597704664424097e-5
allele num: 111182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-15A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-15A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-15A>G
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-15A>G
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2607
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 35790
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-48626743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626743
    reference: chr 7
allele count: 2
allele frequency: 1.800147612104192e-5
allele num: 111102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825-7C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302-7C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506-7C>T
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696-7C>T
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
hgvs: c.14506-7C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

7-48626750-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626750
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626750
    reference: chr 7
allele count: 1
allele frequency: 8.997660608241856e-6
allele num: 111140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3302G>T
  hgvsp: ENSP00000396789.1:p.Val1102Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1696G>T
  hgvsp: ENSP00000442634.1:p.Val566Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1825G>T
  hgvsp: ENSP00000391042.1:p.Val609Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14506G>T
  hgvsp: ENSP00000411096.1:p.Val4836Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36659
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val4836Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48626759-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626759
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626759
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 110690
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14515G>C
  hgvsp: ENSP00000411096.1:p.Asp4839His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1705G>C
  hgvsp: ENSP00000442634.1:p.Asp569His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3311G>C
  hgvsp: ENSP00000396789.1:p.Asp1105His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1834G>C
  hgvsp: ENSP00000391042.1:p.Asp612His
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp4839His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-48626765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626765
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626765
    reference: chr 7
allele count: 377
allele frequency: 3.415783274440518e-3
allele num: 110370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1840A>G
  hgvsp: ENSP00000391042.1:p.Ile614Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14521A>G
  hgvsp: ENSP00000411096.1:p.Ile4841Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3317A>G
  hgvsp: ENSP00000396789.1:p.Ile1107Val
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1711A>G
  hgvsp: ENSP00000442634.1:p.Ile571Val
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 26838
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 35177
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile4841Val
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

7-48626765-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626765
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626765
    reference: chr 7
allele count: 1
allele frequency: 9.06043308870164e-6
allele num: 110370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1711A>T
  hgvsp: ENSP00000442634.1:p.Ile571Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3317A>T
  hgvsp: ENSP00000396789.1:p.Ile1107Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1840A>T
  hgvsp: ENSP00000391042.1:p.Ile614Phe
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14521A>T
  hgvsp: ENSP00000411096.1:p.Ile4841Phe
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile4841Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-48626771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626771
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626771
    reference: chr 7
allele count: 345
allele frequency: 3.148844510970757e-3
allele num: 109564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3323C>T
  hgvsp: ENSP00000396789.1:p.Arg1109Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1846C>T
  hgvsp: ENSP00000391042.1:p.Arg616Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14527C>T
  hgvsp: ENSP00000411096.1:p.Arg4843Cys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1717C>T
  hgvsp: ENSP00000442634.1:p.Arg573Cys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14540
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25817
  bin: 2.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg4843Cys
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

7-48626772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626772
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626772
    reference: chr 7
allele count: 4
allele frequency: 3.65737692926633e-5
allele num: 109368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14528G>A
  hgvsp: ENSP00000411096.1:p.Arg4843His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1847G>A
  hgvsp: ENSP00000391042.1:p.Arg616His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3324G>A
  hgvsp: ENSP00000396789.1:p.Arg1109His
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1718G>A
  hgvsp: ENSP00000442634.1:p.Arg573His
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25673
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg4843His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-48626772-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626772
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626772
    reference: chr 7
allele count: 1
allele frequency: 9.143442323165825e-6
allele num: 109368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1847G>T
  hgvsp: ENSP00000391042.1:p.Arg616Leu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3324G>T
  hgvsp: ENSP00000396789.1:p.Arg1109Leu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14528G>T
  hgvsp: ENSP00000411096.1:p.Arg4843Leu
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1718G>T
  hgvsp: ENSP00000442634.1:p.Arg573Leu
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg4843Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-48626778-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626778
    reference: chr 7
allele count: 3
allele frequency: 2.756238285987284e-5
allele num: 108844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14534A>C
  hgvsp: ENSP00000411096.1:p.His4845Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1853A>C
  hgvsp: ENSP00000391042.1:p.His618Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3330A>C
  hgvsp: ENSP00000396789.1:p.His1111Pro
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1724A>C
  hgvsp: ENSP00000442634.1:p.His575Pro
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24904
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His4845Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-48626782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626782
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626782
    reference: chr 7
allele count: 2
allele frequency: 1.85174897690869e-5
allele num: 108006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14538C>T
  hgvsp: ENST00000435803.1:c.14538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3334C>T
  hgvsp: ENST00000453246.1:c.3334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1728C>T
  hgvsp: ENST00000544596.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1857C>T
  hgvsp: ENST00000411975.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24110
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30953
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu4846Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-48626783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48626783
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48626783
    reference: chr 7
allele count: 2
allele frequency: 1.851200503526537e-5
allele num: 108038
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000391042
  ensembl transcript: ENST00000411975
  gene symbol: ABCA13
  hgvsc: ENST00000411975.1:c.1858G>A
  hgvsp: ENSP00000391042.1:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000411096
  ensembl transcript: ENST00000435803
  gene symbol: ABCA13
  hgvsc: ENST00000435803.1:c.14539G>A
  hgvsp: ENSP00000411096.1:p.Glu4847Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000396789
  ensembl transcript: ENST00000453246
  gene symbol: ABCA13
  hgvsc: ENST00000453246.1:c.3335G>A
  hgvsp: ENSP00000396789.1:p.Glu1113Lys
  variant of: http://identifiers.org/hgnc/14638
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000179869
  ensembl protein: ENSP00000442634
  ensembl transcript: ENST00000544596
  gene symbol: ABCA13
  hgvsc: ENST00000544596.1:c.1729G>A
  hgvsp: ENSP00000442634.1:p.Glu577Lys
  variant of: http://identifiers.org/hgnc/14638
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu4847Lys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

Latino
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: 2966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

DP
type: SiteQuality
SIO_000300: 6.89829e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.767e1

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11822
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 6.43205e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 2.432e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.61794500723589e-4
allele num: 2764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 6.39243e5

QD
type: SiteQuality
SIO_000300: 1.814e1

FS
type: SiteQuality
SIO_000300: 1.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 2.104524728165556e-3
allele num: 11404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.711952487008166e-4
allele num: 2694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.548946716232962e-4
allele num: 6456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.25702e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

East Asian
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: 10378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.85033e5

QD
type: SiteQuality
SIO_000300: 7.6e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.660000000000001e-2

GenotypeQuality
all individuals: 861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.62178e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

QD
type: SiteQuality
SIO_000300: 1.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

DP
type: SiteQuality
SIO_000300: 5.22254e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.210000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.712e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.285016705217168e-4
allele num: 7782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

DP
type: SiteQuality
SIO_000300: 9.22727e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e0

QD
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 356
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.055160508035677e-5
allele num: 48658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 9.47745e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.213e0

VQSLOD
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 1210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
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variant carriers: 0

GenotypeQuality
all individuals: 1251
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 9.996001599360256e-5
allele num: 10004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

African
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: 8030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.76195e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.892e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 18682
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variant carriers: 0

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 18105
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.015560124158504e-5
allele num: 49614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 9.8247e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.63e1

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -3.61e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.297353399065905e-4
allele num: 7708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 9.99549e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.811594202898551e-4
allele num: 11040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

DP
type: SiteQuality
SIO_000300: 1.027453e6

FS
type: SiteQuality
SIO_000300: 5.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16467
bin: 2.25e1
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GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.812151270923745e-5
allele num: 51616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2226e1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

DP
type: SiteQuality
SIO_000300: 1.048441e6

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 22695
bin: 6.25e1
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GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.595495960116899e-5
allele num: 11634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.790611488573193e-5
allele num: 51808
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.058821e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.041e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 1048
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variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 4588
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.747252747252747e-3
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.376612497905847e-5
allele num: 11938
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.889644746787604e-3
allele num: 7938
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.871301080319399e-4
allele num: 8516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.652280379553107e-5
allele num: 52272
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.070052e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 983
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variant carriers: 0

GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 1266
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 23978
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.5220700152207e-4
allele num: 52560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.78225673219891e-4
allele num: 12106
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.077556e6

GenotypeQuality
all individuals: 593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53354
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

DP
type: SiteQuality
SIO_000300: 1.092746e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 3.327581957111166e-3
allele num: 8114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.299e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.105748e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 3627
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GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 1248
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.847814035995417e-5
allele num: 54118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13182
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.114937e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 2.304e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1671
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.26295541977823e-4
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.412030499858797e-4
allele num: 7082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.261761158021713e-4
allele num: 13264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.843385931278572e-5
allele num: 54248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 1.116554e6

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 4232
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 347
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GenotypeQuality
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54248
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.131477709889115e-4
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 4.257e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.116554e6

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 1481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1247
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variant carriers: 1

GenotypeQuality
all individuals: 14577
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.480550568521843e-5
allele num: 13368
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.120613e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.380511050242018e-5
allele num: 53302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.317870321560359e-4
allele num: 7588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.448e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 4.8684e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.110177e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.965e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1212
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variant carriers: 8

GenotypeQuality
all individuals: 1635
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.500881768038723e-4
allele num: 53302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.8684e1

QD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.110177e6

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 1
allele frequency: 1.823819077147547e-5
allele num: 54830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.119319453772107e-4
allele num: 8934
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13448
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5394
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.245019920318725e-4
allele num: 8032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.462291977713849e-5
allele num: 54922
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7144
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 13478
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QD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 5.4618e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.106474e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.791536780250098e-5
allele num: 55818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.139293e6

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

QD
type: SiteQuality
SIO_000300: 1.474e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 24053
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 162
allele frequency: 2.936272022040165e-3
allele num: 55172
num of homozygotes: 0

African
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allele count: 76
allele frequency: 9.696351109977035e-3
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13724
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.38121546961326e-3
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.097935880544576e-4
allele num: 9108
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.386577925679423e-4
allele num: 7212
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.826e1

VQSLOD
type: SiteQuality
SIO_000300: -2.797e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

DP
type: SiteQuality
SIO_000300: 1.149703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

FS
type: SiteQuality
SIO_000300: 7.6577e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.907508461697865e-5
allele num: 57908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

FS
type: SiteQuality
SIO_000300: 3.478e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 9.81e0

DP
type: SiteQuality
SIO_000300: 1.215444e6

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.445543189883885e-5
allele num: 58046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.221315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.138777841233581e-5
allele num: 14008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.623e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

DP
type: SiteQuality
SIO_000300: 1.232343e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58586
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 6.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

DP
type: SiteQuality
SIO_000300: 1.23851e6

FS
type: SiteQuality
SIO_000300: 1.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10764
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.42511044605957e-4
allele num: 14034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.241384e6

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 694
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GenotypeQuality
all individuals: 1267
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693422746054325e-5
allele num: 59052
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.266243e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.55e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 661
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GenotypeQuality
all individuals: 204
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.694111269228163e-5
allele num: 59028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 1.26631e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.700275444622029e-5
allele num: 58814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14030
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 13886
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718980988070272e-5
allele num: 58174
num of homozygotes: 0

Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.475e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.36630383341221e-4
allele num: 8452
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.986655488017886e-5
allele num: 57252
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East Asian
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South Asian
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allele frequency: 1.45921494236101e-4
allele num: 13706
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.746297848561051e-5
allele num: 57264
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Latino
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allele num: 9372
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5732
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African
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Other
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East Asian
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South Asian
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.231659e6

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 4.23e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 414
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.015820675623532e-5
allele num: 57014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 1.888e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.229621e6

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 595
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.261865506717648e-5
allele num: 57014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

DP
type: SiteQuality
SIO_000300: 1.229621e6

QD
type: SiteQuality
SIO_000300: 1.125e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 1.888e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13580
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.218173e6

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 6.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.303e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.766846885048942e-5
allele num: 56598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.359434795407713e-5
allele num: 13588
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.132231404958678e-4
allele num: 7260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 4.189e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.217811e6

GenotypeQuality
all individuals: 770
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 1447
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.185792349726776e-4
allele num: 9150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.493143854400399e-4
allele num: 56154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 1.204258e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.137044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.821e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.054e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 575
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GenotypeQuality
all individuals: 2399
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.824823101931536e-5
allele num: 52290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 2.739e0

DP
type: SiteQuality
SIO_000300: 1.091068e6

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.5e-4
allele num: 8000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12770
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.057204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.287e0

QD
type: SiteQuality
SIO_000300: 1.095e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.017756255044391e-5
allele num: 49560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 9.8695e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 2.596e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.329e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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: 7498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.085381630012937e-5
allele num: 12368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.826e0

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.6845e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 385
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4862
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.10863697705803e-5
allele num: 47424
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.987e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.936e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46492
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 3
allele frequency: 2.518045996306866e-4
allele num: 11914
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.95168e5

MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.421e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1379
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.405994550408719e-4
allele num: 5872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.054e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.177e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.188e0

FS
type: SiteQuality
SIO_000300: 6.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.62235e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624484226258163e-5
allele num: 61558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.203646e6

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.873e0

FS
type: SiteQuality
SIO_000300: 6.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.486766995329527e-5
allele num: 61664
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.228501228501228e-3
allele num: 814
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.613e0

FS
type: SiteQuality
SIO_000300: 3.226e0

QD
type: SiteQuality
SIO_000300: 1.085e1

DP
type: SiteQuality
SIO_000300: 1.233057e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618070612601534e-5
allele num: 61802
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.032e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.52e0

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.23676e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.61796589327897e-5
allele num: 61806
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.671e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.793e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.240229e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61876
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.37438152831226e-4
allele num: 14552
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.77e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.269595e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 1.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10494
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.612279117760867e-5
allele num: 62024
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

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

African
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allele frequency: 1.128413450688332e-4
allele num: 8862
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South Asian
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DP
type: SiteQuality
SIO_000300: 1.293838e6

VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.224558235521733e-5
allele num: 62024
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Other
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South Asian
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African
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East Asian
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DP
type: SiteQuality
SIO_000300: 1.293838e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 4.50755014649538e-4
allele num: 8874
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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East Asian
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VQSLOD
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DP
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62076
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Other
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allele frequency: 0.0e0
allele num: 828
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6196
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South Asian
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allele frequency: 1.373815084489628e-4
allele num: 14558
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African
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East Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.319674e6

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 2.981e0

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 1233
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2085
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.84931506849315e-5
allele num: 14600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

FS
type: SiteQuality
SIO_000300: 3.072e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.326698e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
all individuals: 2011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61828
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.707e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 2.127e1

DP
type: SiteQuality
SIO_000300: 1.325125e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

GenotypeQuality
all individuals: 828
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1695
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.652272213429799e-4
allele num: 8846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 268
allele frequency: 4.347685019953928e-3
allele num: 61642
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.506180871828237e-4
allele num: 6148
num of homozygotes: 0

South Asian
type: Population
allele count: 83
allele frequency: 5.695073418416358e-3
allele num: 14574
num of homozygotes: 1

Latino
type: Population
allele count: 12
allele frequency: 1.15919629057187e-3
allele num: 10352
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.854368932038835e-3
allele num: 824
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.325218e6

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622270529833555e-5
allele num: 61642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.325218e6

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
all individuals: 1766
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1500
bin: 9.75e1
variant carriers: 325

GenotypeQuality
all individuals: 737
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2072
bin: 3.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.897159647404506e-3
allele num: 6126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 285
allele frequency: 4.656862745098039e-3
allele num: 61200
num of homozygotes: 3

Latino
type: Population
allele count: 19
allele frequency: 1.856193825713169e-3
allele num: 10236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.274795268425842e-4
allele num: 8792
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.072395689416966e-4
allele num: 14476
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.352941176470588e-3
allele num: 816
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 1.315861e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4063
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.91030509362315e-5
allele num: 61096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.639881928501148e-4
allele num: 6098
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

DP
type: SiteQuality
SIO_000300: 1.31153e6

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

DP
type: SiteQuality
SIO_000300: 1.31153e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1783
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.956830277942046e-4
allele num: 10146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 1.299825e6

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.983240223463687e-5
allele num: 14320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.173999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.291531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 7.21e0

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0