2-220079204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079204
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1155C>T
  hgvsp: ENST00000439002.2:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.431C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.202C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1404C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.494C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.836C>T
  hgvsp: ENST00000295750.4:c.836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1293C>T
  hgvsp: ENST00000265316.3:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3252C>T
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val431Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-220079212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079212
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079212
    reference: chr 2
allele count: 5
allele frequency: 4.128001056768271e-5
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.194A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1285A>G
  hgvsp: ENSP00000265316.3:p.Ile429Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1147A>G
  hgvsp: ENSP00000394333.2:p.Ile383Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3244A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.423A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.486A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.828A>G
  hgvsp: ENSP00000295750.4:p.Ile277Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*230A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1396A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.*3A>G
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile429Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-220079223-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079221
    reference: chr 2
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.181_182delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-5_478-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1383_1384delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-5_*3236-4delTC
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-5_820-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-5_1277-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-5_1139-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-5_353-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-5_*222-4delTC
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-5_415-4delTC
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1277-5_1277-4delTC
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: GGA
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220079224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079224
    reference: chr 2
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.182C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-4C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-4C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1384C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-4C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1277-4C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-220079231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079231
    reference: chr 2
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1377T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.175T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-11T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-11T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-11T>C
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-220079234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079234
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079234
    reference: chr 2
allele count: 31
allele frequency: 2.566777617699174e-4
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1374C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-14C>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-14C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.172C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-14C>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-220079239-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079239
    reference: chr 2
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.167C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1369C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-19C>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-19C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-19C>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-220079252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079252
    reference: chr 2
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.154C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-32C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-32C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1356C>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

2-220079255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079255
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079255
    reference: chr 2
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-35T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1353T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-35T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.151T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-35T>C
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-220079272-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079272
    reference: chr 2
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.415-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*222-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.1336T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1139-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.820-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.478-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000494639
  gene symbol: ABCB6
  hgvsc: ENST00000494639.1:n.134T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1277-52T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3236-52T>G
  variant of: http://identifiers.org/hgnc/22408
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-220079641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079641
    reference: chr 2
allele count: 3
allele frequency: 2.484760137821362e-5
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+42G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+42G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-421G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.967G>A
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-220079641-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079641
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.967G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+42G>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+42G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-421G>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

2-220079642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079642
    reference: chr 2
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.966G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+41G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-422G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+41G>A
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

2-220079643-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079643
    reference: chr 2
allele count: 140
allele frequency: 1.159074727203484e-3
allele num: 120786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+40A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+40A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+40A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+40A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.965A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-423A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+40A>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+40A>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+40A>C
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18897
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-220079644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079644
    reference: chr 2
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+39C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-424C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+39C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.964C>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-220079661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079661
    reference: chr 2
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+22C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+22C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+22C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+22C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.947C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-441C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+22C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+22C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+22C>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

2-220079664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079664
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079664
    reference: chr 2
allele count: 26
allele frequency: 2.149613069647464e-4
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+19C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+19C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-444C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+19C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+19C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.944C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+19C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+19C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+19C>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

2-220079670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079670
    reference: chr 2
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.938G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-450G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+13G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+13G>A
  variant of: http://identifiers.org/hgnc/22408
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-220079676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079676
    reference: chr 2
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235+7G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477+7G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-456G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.932G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9840
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1276+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-220079681-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079679
    reference: chr 2
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1138_1138+1delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3235_*3235+1delAG
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.477_477+1delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.414_414+1delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1276_1276+1delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-463_353-462delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.819_819+1delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.925_926delAG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*221_*221+1delAG
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1276_1276+1delAG
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ACT
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-220079686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079686
    reference: chr 2
allele count: 51
allele frequency: 4.211465094386365e-4
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3232C>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.411C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1135C>G
  hgvsp: ENSP00000394333.2:p.Leu379Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*218C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.922C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.474C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1273C>G
  hgvsp: ENSP00000265316.3:p.Leu425Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-466C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.816C>G
  hgvsp: ENSP00000295750.4:p.Leu273Val
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20070
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu425Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-220079695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079695
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079695
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.465A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.402A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.913A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3223A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1126A>G
  hgvsp: ENSP00000394333.2:p.Ser376Gly
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.807A>G
  hgvsp: ENSP00000295750.4:p.Ser270Gly
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-475A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*209A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1264A>G
  hgvsp: ENSP00000265316.3:p.Ser422Gly
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser422Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-220079700-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079700
    reference: chr 2
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1259G>T
  hgvsp: ENSP00000265316.3:p.Cys420Phe
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.460G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.802G>T
  hgvsp: ENSP00000295750.4:p.Cys268Phe
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1121G>T
  hgvsp: ENSP00000394333.2:p.Cys374Phe
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.908G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3218G>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-480G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*204G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.397G>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys420Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

2-220079703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079703
    reference: chr 2
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*201T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.799T>C
  hgvsp: ENSP00000295750.4:p.Leu267Pro
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.394T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.457T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1256T>C
  hgvsp: ENSP00000265316.3:p.Leu419Pro
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1118T>C
  hgvsp: ENSP00000394333.2:p.Leu373Pro
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3215T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-483T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.905T>C
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu419Pro
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

2-220079711-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079711
    reference: chr 2
allele count: 23
allele frequency: 1.898034296654508e-4
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-491T>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1110T>A
  hgvsp: ENST00000439002.2:c.1110T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.897T>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.386T>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3207T>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.791T>A
  hgvsp: ENST00000295750.4:c.791T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1248T>A
  hgvsp: ENST00000265316.3:c.1248T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.449T>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*193T>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20223
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile416Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-220079717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079717
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1242C>T
  hgvsp: ENST00000265316.3:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.891C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1104C>T
  hgvsp: ENST00000439002.2:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.443C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.380C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-497C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.785C>T
  hgvsp: ENST00000295750.4:c.785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3201C>T
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly414Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-220079723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079723
    reference: chr 2
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.885G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1236G>A
  hgvsp: ENSP00000265316.3:p.Trp412Ter
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3195G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.374G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.779G>A
  hgvsp: ENSP00000295750.4:p.Trp260Ter
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1098G>A
  hgvsp: ENSP00000394333.2:p.Trp366Ter
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-503G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.437G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12879
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp412Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-220079735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079735
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079735
    reference: chr 2
allele count: 3
allele frequency: 2.475124993812188e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1086C>T
  hgvsp: ENST00000439002.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3183C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.767C>T
  hgvsp: ENST00000295750.4:c.767C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1224C>T
  hgvsp: ENST00000265316.3:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.425C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-515C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.873C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.362C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe408Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

2-220079738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079738
    reference: chr 2
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1221G>A
  hgvsp: ENSP00000265316.3:p.Met407Ile
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.359G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.870G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3180G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-518G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.764G>A
  hgvsp: ENSP00000295750.4:p.Met255Ile
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1083G>A
  hgvsp: ENSP00000394333.2:p.Met361Ile
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.422G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met407Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-220079740-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079740
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*164A>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1081A>T
  hgvsp: ENSP00000394333.2:p.Met361Leu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.357A>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.868A>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1219A>T
  hgvsp: ENSP00000265316.3:p.Met407Leu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.420A>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3178A>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-520A>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.762A>T
  hgvsp: ENSP00000295750.4:p.Met255Leu
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met407Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-220079742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079742
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-522G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.355G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.760G>A
  hgvsp: ENSP00000295750.4:p.Ser254Asn
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3176G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.866G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1217G>A
  hgvsp: ENSP00000265316.3:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1079G>A
  hgvsp: ENSP00000394333.2:p.Ser360Asn
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.418G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser406Asn
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: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220079748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079748
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3170A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1073A>G
  hgvsp: ENSP00000394333.2:p.Tyr358Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.349A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.754A>G
  hgvsp: ENSP00000295750.4:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.860A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1211A>G
  hgvsp: ENSP00000265316.3:p.Tyr404Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-528A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.412A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*156A>G
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr404Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-220079750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079750
    reference: chr 2
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.858C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1071C>T
  hgvsp: ENST00000439002.2:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.752C>T
  hgvsp: ENST00000295750.4:c.752C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3168C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.347C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1209C>T
  hgvsp: ENST00000265316.3:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.410C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-530C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile403Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220079764-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079764
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1057A>G
  hgvsp: ENSP00000394333.2:p.Ile353Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1195A>G
  hgvsp: ENSP00000265316.3:p.Ile399Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*140A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-544A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.333A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3154A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.738A>G
  hgvsp: ENSP00000295750.4:p.Ile247Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.844A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*324A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.396A>G
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9800
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile399Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-220079773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079773
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079773
    reference: chr 2
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.324G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.729G>A
  hgvsp: ENSP00000295750.4:p.Ala244Thr
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*131G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3145G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.387G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1048G>A
  hgvsp: ENSP00000394333.2:p.Ala350Thr
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1186G>A
  hgvsp: ENSP00000265316.3:p.Ala396Thr
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-553G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.835G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala396Thr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-220079777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079777
    reference: chr 2
allele count: 3
allele frequency: 2.476514388548598e-5
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-557G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*127G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.725G>A
  hgvsp: ENST00000295750.4:c.725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1182G>A
  hgvsp: ENST00000265316.3:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1044G>A
  hgvsp: ENST00000439002.2:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.320G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3141G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.383G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.831G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25739
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr394Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-220079778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079778
    reference: chr 2
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.319C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*126C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1181C>T
  hgvsp: ENSP00000265316.3:p.Thr394Met
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3140C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1043C>T
  hgvsp: ENSP00000394333.2:p.Thr348Met
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-558C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.382C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.724C>T
  hgvsp: ENSP00000295750.4:p.Thr242Met
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.830C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr394Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-220079787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079787
    reference: chr 2
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1172T>C
  hgvsp: ENSP00000265316.3:p.Val391Ala
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.715T>C
  hgvsp: ENSP00000295750.4:p.Val239Ala
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.373T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3131T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*301T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-567T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.310T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*117T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1034T>C
  hgvsp: ENSP00000394333.2:p.Val345Ala
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.821T>C
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val391Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-220079795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079795
    reference: chr 2
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.302G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1026G>A
  hgvsp: ENST00000439002.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.813G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*293G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.707G>A
  hgvsp: ENST00000295750.4:c.707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.365G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-575G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3123G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1164G>A
  hgvsp: ENST00000265316.3:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val388Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-220079812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079812
    reference: chr 2
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-8C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.348C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-8C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-592C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.796C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1155-8C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-220079816-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079816
    reference: chr 2
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-12C>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-596C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-12C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.792C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-12C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-12C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-12C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-12C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.344C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-12C>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS

2-220079816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079816
    reference: chr 2
allele count: 4
allele frequency: 3.310710147326601e-5
allele num: 120820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-12C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-12C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-596C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.344C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-12C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-12C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-12C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-12C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.792C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-12C>T
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-220079827-TAAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079823
    reference: chr 2
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-27_*3114-24delTCTT
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-27_698-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.329_332delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-27_1017-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.777_780delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-27_*100-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-27_293-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-27_1155-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-27_*284-24delTCTT
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-611_353-608delTCTT
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  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: TAAGA
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-220079833-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079833
    reference: chr 2
allele count: 7
allele frequency: 5.809996514002092e-5
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-29T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-29T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.327T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-29T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-29T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-29T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-613T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.775T>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-29T>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-29T>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-220079834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079834
    reference: chr 2
allele count: 2
allele frequency: 1.660329741486659e-5
allele num: 120458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.326C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-30C>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.774C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-30C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-614C>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-220079835-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079835
    reference: chr 2
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.773C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.325C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-31C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-615C>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-31C>G
  variant of: http://identifiers.org/hgnc/22408
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-220079846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220079846
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220079846
    reference: chr 2
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.293-42A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3114-42A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000496984
  gene symbol: ABCB6
  hgvsc: ENST00000496984.1:n.314A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*284-42A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*100-42A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000497882
  gene symbol: ABCB6
  hgvsc: ENST00000497882.1:n.762A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1155-42A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1017-42A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-626A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.698-42A>G
  variant of: http://identifiers.org/hgnc/47
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-220080678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080678
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080678
    reference: chr 2
allele count: 5
allele frequency: 9.018759018759019e-5
allele num: 55440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+41G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1458G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+41G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+408G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-220080679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080679
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 56118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+40C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+40C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+40C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+40C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+40C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+407C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1459C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+40C>T
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6952
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-220080686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080686
    reference: chr 2
allele count: 4
allele frequency: 6.838074398249453e-5
allele num: 58496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+33G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+33G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+33G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+400G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+33G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+33G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+33G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1466G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-220080691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080691
    reference: chr 2
allele count: 1
allele frequency: 1.649566164098842e-5
allele num: 60622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1471G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+28G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+28G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+28G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+28G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+28G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+395G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+28G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-220080695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080695
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080695
    reference: chr 2
allele count: 3
allele frequency: 4.803689233331198e-5
allele num: 62452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1475T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+24T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+24T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+24T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+391T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+24T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+24T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+24T>C
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-220080701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080701
    reference: chr 2
allele count: 1
allele frequency: 1.537184492882836e-5
allele num: 65054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+385A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+18A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+18A>G
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+18A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+18A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1481A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+18A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+18A>G
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-220080708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080708
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 68918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+11A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+11A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+11A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+11A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1488A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+11A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+378A>G
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+11A>G
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21998
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-220080709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080709
    reference: chr 2
allele count: 1
allele frequency: 1.440092165898618e-5
allele num: 69440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+10C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1489C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+10C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+10C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+10C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+10C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+377C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+10C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22423
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-220080713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080713
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080713
    reference: chr 2
allele count: 2
allele frequency: 2.816266756787203e-5
allele num: 71016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+6G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1493G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+6G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+6G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+6G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+6G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+6G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+373G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1154+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-220080714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080714
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 72334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+5C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+5C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1494C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+5C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+5C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+5C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+5C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+372C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1154+5C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-220080717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080717
    reference: chr 2
allele count: 3
allele frequency: 4.014344591339721e-5
allele num: 74732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1497T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.292+2T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1154+2T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.697+2T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+369T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3113+2T>C
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.1016+2T>C
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*283+2T>C
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1154+2T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-220080748-CCGATCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080741
    reference: chr 2
allele count: 4
allele frequency: 4.636820995525468e-5
allele num: 86266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.980_986delCGGATCG
  hgvsp: ENSP00000394333.2:p.Ala327GlyfsTer47
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*247_*253delCGGATCG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.256_262delCGGATCG
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.661_667delCGGATCG
  hgvsp: ENSP00000295750.4:p.Ala221GlyfsTer47
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1118_1124delCGGATCG
  hgvsp: ENSP00000265316.3:p.Ala373GlyfsTer47
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala373GlyfsTer47
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CCGATCCG
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-220080749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080749
    reference: chr 2
allele count: 2
allele frequency: 2.350839249612111e-5
allele num: 85076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1529G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.667G>A
  hgvsp: ENSP00000295750.4:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.986G>A
  hgvsp: ENSP00000394333.2:p.Arg329Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.262G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1124G>A
  hgvsp: ENSP00000265316.3:p.Arg375Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+337G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3083G>A
  variant of: http://identifiers.org/hgnc/22408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg375Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

2-220080750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080750
    reference: chr 2
allele count: 2
allele frequency: 2.331382743104936e-5
allele num: 85786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.261C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3082C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.666C>T
  hgvsp: ENSP00000295750.4:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*252C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+336C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.985C>T
  hgvsp: ENSP00000394333.2:p.Arg329Trp
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1123C>T
  hgvsp: ENSP00000265316.3:p.Arg375Trp
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1530C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg375Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-220080754-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080754
    reference: chr 2
allele count: 1
allele frequency: 1.149372442646315e-5
allele num: 87004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3078G>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1534G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.662G>T
  hgvsp: ENST00000295750.4:c.662G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.981G>T
  hgvsp: ENST00000439002.2:c.981G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1119G>T
  hgvsp: ENST00000265316.3:c.1119G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*248G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.257G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+332G>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25883
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala373Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-220080754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080754
    reference: chr 2
allele count: 7
allele frequency: 8.045607098524206e-5
allele num: 87004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.981G>A
  hgvsp: ENST00000439002.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.257G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+332G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3078G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1119G>A
  hgvsp: ENST00000265316.3:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.662G>A
  hgvsp: ENST00000295750.4:c.662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1534G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala373Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-220080755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080755
    reference: chr 2
allele count: 2
allele frequency: 2.306166689728334e-5
allele num: 86724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1118C>T
  hgvsp: ENSP00000265316.3:p.Ala373Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+331C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.980C>T
  hgvsp: ENSP00000394333.2:p.Ala327Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.256C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3077C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.661C>T
  hgvsp: ENSP00000295750.4:p.Ala221Val
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1535C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19815
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala373Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-220080757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080757
    reference: chr 2
allele count: 4
allele frequency: 4.561003420752566e-5
allele num: 87700
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1116C>T
  hgvsp: ENST00000265316.3:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.978C>T
  hgvsp: ENST00000439002.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+329C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1537C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3075C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.659C>T
  hgvsp: ENST00000295750.4:c.659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.254C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile372Ile
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-220080761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080761
    reference: chr 2
allele count: 21
allele frequency: 2.397315007191945e-4
allele num: 87598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.974G>A
  hgvsp: ENSP00000394333.2:p.Arg325Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1541G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*241G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3071G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1112G>A
  hgvsp: ENSP00000265316.3:p.Arg371Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.655G>A
  hgvsp: ENSP00000295750.4:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.250G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+325G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25292
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg371Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-220080779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080779
    reference: chr 2
allele count: 24
allele frequency: 2.918429884722019e-4
allele num: 82236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.956G>A
  hgvsp: ENSP00000394333.2:p.Arg319His
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3053G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1559G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*223G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+307G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1094G>A
  hgvsp: ENSP00000265316.3:p.Arg365His
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.232G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.637G>A
  hgvsp: ENSP00000295750.4:p.Arg213His
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 26380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Arg365His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-220080782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080782
    reference: chr 2
allele count: 2
allele frequency: 2.482190284707226e-5
allele num: 80574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+304G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*220G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.953G>T
  hgvsp: ENSP00000394333.2:p.Arg318Leu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3050G>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.634G>T
  hgvsp: ENSP00000295750.4:p.Arg212Leu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1091G>T
  hgvsp: ENSP00000265316.3:p.Arg364Leu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1562G>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.229G>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14922
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg364Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-220080783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080783
    reference: chr 2
allele count: 5
allele frequency: 6.339385333198093e-5
allele num: 78872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1090C>T
  hgvsp: ENSP00000265316.3:p.Arg364Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.633C>T
  hgvsp: ENSP00000295750.4:p.Arg212Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+303C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1563C>T
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.952C>T
  hgvsp: ENSP00000394333.2:p.Arg318Cys
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3049C>T
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.228C>T
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg364Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-220080785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220080785
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220080785
    reference: chr 2
allele count: 8
allele frequency: 1.011429149388085e-4
allele num: 79096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000295750
  ensembl transcript: ENST00000295750
  gene symbol: ABCB6
  hgvsc: ENST00000295750.4:c.631G>A
  hgvsp: ENSP00000295750.4:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000404006
  ensembl transcript: ENST00000448398
  gene symbol: ABCB6
  hgvsc: ENST00000448398.1:c.353-1565G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000392988
  ensembl transcript: ENST00000417678
  gene symbol: ABCB6
  hgvsc: ENST00000417678.1:c.*99+301G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000198925
  ensembl protein: ENSP00000398528
  ensembl transcript: ENST00000446716
  gene symbol: ATG9A
  hgvsc: ENST00000446716.1:c.*3047G>A
  variant of: http://identifiers.org/hgnc/22408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115657
  ensembl transcript: ENST00000492953
  gene symbol: ABCB6
  hgvsc: ENST00000492953.1:n.226G>A
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000265316
  ensembl transcript: ENST00000265316
  gene symbol: ABCB6
  hgvsc: ENST00000265316.3:c.1088G>A
  hgvsp: ENSP00000265316.3:p.Gly363Glu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000394333
  ensembl transcript: ENST00000439002
  gene symbol: ABCB6
  hgvsc: ENST00000439002.2:c.950G>A
  hgvsp: ENSP00000394333.2:p.Gly317Glu
  variant of: http://identifiers.org/hgnc/47
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115657
  ensembl protein: ENSP00000401811
  ensembl transcript: ENST00000452545
  gene symbol: ABCB6
  hgvsc: ENST00000452545.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/47
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17487
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly363Glu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2795
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.719e0

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.919815e6

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6229
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 8943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.514954759972345e-5
allele num: 66534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.918107e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34293
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6222
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.91448e6

FS
type: SiteQuality
SIO_000300: 1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.637e1

MQRankSum
type: SiteQuality
SIO_000300: -1.601e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 1.191e1

FS
type: SiteQuality
SIO_000300: 1.569e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.912839e6

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.265e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 1.906328e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6234
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 2728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.520659413519785e-4
allele num: 66362
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 1.899992e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 8576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6198
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.493e0

MQRankSum
type: SiteQuality
SIO_000300: -1.233e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 9.85e0

DP
type: SiteQuality
SIO_000300: 1.885263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.349e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.351e0

GenotypeQuality
all individuals: 3142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6181
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

DP
type: SiteQuality
SIO_000300: 1.803781e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.727e1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 8.76e0

VQSLOD
type: SiteQuality
SIO_000300: -3.719e-1

DP
type: SiteQuality
SIO_000300: 1.771399e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 4964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6400
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6161
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.539882968894364e-4
allele num: 6494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65348
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.184e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.653072e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

GenotypeQuality
all individuals: 1798
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9898
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.896312029349295e-4
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.969383e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.207e1

FS
type: SiteQuality
SIO_000300: 1.517e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9898
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

DP
type: SiteQuality
SIO_000300: 1.969383e6

FS
type: SiteQuality
SIO_000300: 1.517e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 22623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9895
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.443e0

QD
type: SiteQuality
SIO_000300: 1.417e1

DP
type: SiteQuality
SIO_000300: 1.970445e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.341e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 6.789e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

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

GenotypeQuality
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9960
bin: 9.75e1
variant carriers: 140

GenotypeQuality
all individuals: 4822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.790387955993051e-4
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.067961165048543e-4
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.699147381242388e-4
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.7342783893832e-3
allele num: 66310
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 7.07e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.972886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

GenotypeQuality
all individuals: 1797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 7.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.976e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

DP
type: SiteQuality
SIO_000300: 1.972309e6

GenotypeQuality
all individuals: 8350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.987608e6

QD
type: SiteQuality
SIO_000300: 8.24e0

FS
type: SiteQuality
SIO_000300: 2.913e0

VQSLOD
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeQuality
all individuals: 3733
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9863
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.578052925467346e-3
allele num: 16476
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 1.988966e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9838
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1791
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8384
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 1.991249e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

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

GenotypeQuality
all individuals: 3736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.01e0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.341e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

DP
type: SiteQuality
SIO_000300: 1.993092e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 2.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1792
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25443
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.356e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.993934e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9856
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25487
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 46
allele frequency: 4.430745521094201e-3
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.772e0

FS
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.353e1

DP
type: SiteQuality
SIO_000300: 1.996957e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.559e0

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 1.995607e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 3569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.482e0

VQSLOD
type: SiteQuality
SIO_000300: -3.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.996128e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.996431e6

VQSLOD
type: SiteQuality
SIO_000300: -7.554e-1

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25660
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9833
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 3565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051619494020792e-4
allele num: 66564
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 14
allele frequency: 1.211701575212048e-3
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

DP
type: SiteQuality
SIO_000300: 1.997298e6

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3562
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 3.498e0

QD
type: SiteQuality
SIO_000300: 1.684e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

DP
type: SiteQuality
SIO_000300: 1.997159e6

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9808
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 1.997333e6

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9807
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25724
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505180958101817e-5
allele num: 66590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.198e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.032e0

DP
type: SiteQuality
SIO_000300: 1.997637e6

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.248e0

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: -3.226e0

MQ
type: SiteQuality
SIO_000300: 5.732e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

FS
type: SiteQuality
SIO_000300: 3.193e0

DP
type: SiteQuality
SIO_000300: 1.997493e6

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.147e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.997461e6

MQRankSum
type: SiteQuality
SIO_000300: -1.082e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4821
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8428
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.35e-2

FS
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.997599e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.538e1

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 1.997562e6

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9802
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3567
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.997546e6

FS
type: SiteQuality
SIO_000300: 5.967e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.434e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.195e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 1.997201e6

GenotypeQuality
all individuals: 3549
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.529e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.99666e6

MQRankSum
type: SiteQuality
SIO_000300: -1.536e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

QD
type: SiteQuality
SIO_000300: 2.86e0

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

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9799
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.687e0

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.996567e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25772
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 1.996376e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.412e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.886e0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.899e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 1.995367e6

GenotypeQuality
all individuals: 8366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9796
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25608
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 1.99407e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 25084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9789
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.881e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.986663e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.984458e6

FS
type: SiteQuality
SIO_000300: 3.916e0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9793
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.031908797538981e-5
allele num: 66314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 3.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.984458e6

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9782
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.969252e6

MQRankSum
type: SiteQuality
SIO_000300: -1.61e0

MQ
type: SiteQuality
SIO_000300: 5.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7873
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 22587
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9785
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.080611535788742e-4
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 1.494e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.953153e6

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9778
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 869
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.941747572815534e-4
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.979e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 4.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.948988e6

GenotypeQuality
all individuals: 7806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 4.999e0

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.945098e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9750
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

FS
type: SiteQuality
SIO_000300: 3.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 9.65e0

DP
type: SiteQuality
SIO_000300: 1.884765e6

VQSLOD
type: SiteQuality
SIO_000300: -4.084e-1

GenotypeQuality
all individuals: 1238
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7052
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1537
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.742731760833791e-4
allele num: 7292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.234413965087281e-5
allele num: 32080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.890359168241966e-4
allele num: 5290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 6.37355e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.51e0

GenotypeQuality
all individuals: 92
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 6.48307e5

VQSLOD
type: SiteQuality
SIO_000300: -3.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 7.194244604316547e-4
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.03044e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.473e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.4e0

GenotypeQuality
all individuals: 5398
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.177700348432056e-4
allele num: 4592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

DP
type: SiteQuality
SIO_000300: 7.45169e5

GenotypeQuality
all individuals: 15531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.35593220338983e-4
allele num: 4720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 6.1e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.72834e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

QD
type: SiteQuality
SIO_000300: 7.56e0

GenotypeQuality
all individuals: 1184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.904761904761905e-4
allele num: 5250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

QD
type: SiteQuality
SIO_000300: 1.106e1

MQRankSum
type: SiteQuality
SIO_000300: -1.545e0

MQ
type: SiteQuality
SIO_000300: 5.635e1

VQSLOD
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 8.10918e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.705e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 8.65061e5

QD
type: SiteQuality
SIO_000300: 6.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.488552657774238e-5
allele num: 40184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 8.73257e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 504
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21605
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 629
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.431906614785992e-5
allele num: 41120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.890359168241966e-4
allele num: 5290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.94164e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.245e0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 7.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
all individuals: 644
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 6.886e0

DP
type: SiteQuality
SIO_000300: 9.02468e5

QD
type: SiteQuality
SIO_000300: 7.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24822
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6734
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.397537379067722e-4
allele num: 6822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 9.28286e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 5.422e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.461496450027307e-4
allele num: 7324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.026e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.041129e6

QD
type: SiteQuality
SIO_000300: 5.17e0

MQ
type: SiteQuality
SIO_000300: 5.112e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

GenotypeQuality
all individuals: 2066
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.090126243625115e-5
allele num: 47844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.017293997965412e-4
allele num: 9830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 2.182e0

DP
type: SiteQuality
SIO_000300: 1.027936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

QD
type: SiteQuality
SIO_000300: 2.217e1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19616
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1075
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.386962552011096e-4
allele num: 7210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.079520878389619e-5
allele num: 48088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 1.032307e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
all individuals: 19442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 5.25e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.380834023750345e-4
allele num: 7242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48506
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.044071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 6.272214091574326e-4
allele num: 9566
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 9.27299703264095e-5
allele num: 10784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.044071e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
all individuals: 1840
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.677852348993289e-3
allele num: 596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.075636182489933e-5
allele num: 48178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.035599e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

FS
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.046682018002931e-4
allele num: 9554
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.758087201125176e-4
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.483239394838327e-4
allele num: 6742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.142e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

DP
type: SiteQuality
SIO_000300: 1.044644e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.445578231292517e-3
allele num: 11760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.291530201898761e-5
allele num: 48242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

DP
type: SiteQuality
SIO_000300: 1.034964e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

GenotypeQuality
all individuals: 1122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.245777937477542e-4
allele num: 44528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.637426900584795e-3
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.306e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 7.49e0

GenotypeQuality
all individuals: 577
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17719
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.295367947481982e-5
allele num: 43566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.216926869350862e-5
allele num: 12170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

DP
type: SiteQuality
SIO_000300: 8.94388e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 395
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 720
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12042
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.97702616464582e-4
allele num: 6268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -1.736e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

DP
type: SiteQuality
SIO_000300: 8.69321e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1