3-160143975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160143975
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160143975
    reference: chr 3
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1815T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12045A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2592T>C
  hgvsp: ENST00000357388.3:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2592T>C
  hgvsp: ENST00000344722.5:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2592T>C
  hgvsp: ENST00000360111.2:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2517T>C
  hgvsp: ENST00000469762.1:c.2517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2592T>C
  hgvsp: ENST00000462787.1:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser864Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-160143976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160143976
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160143976
    reference: chr 3
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12044C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2593G>A
  hgvsp: ENSP00000353225.2:p.Ala865Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2593G>A
  hgvsp: ENSP00000420734.1:p.Ala865Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2593G>A
  hgvsp: ENSP00000349961.3:p.Ala865Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1816G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2593G>A
  hgvsp: ENSP00000341382.5:p.Ala865Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2518G>A
  hgvsp: ENSP00000417964.1:p.Ala840Thr
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala865Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-160143992-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160143992
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160143992
    reference: chr 3
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+4T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12028A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+4T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+4T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+4T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+4T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+4T>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6301
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2605+4T>G
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-160144006-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144003
    reference: chr 3
allele count: 7
allele frequency: 5.795949459320715e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+19_2605+21delCTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+19_2530+21delCTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12011_952+12013delAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+19_2605+21delCTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+19_2605+21delCTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+19_2605+21delCTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+19_1828+21delCTT
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43423
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: CCTT
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

3-160144007-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144006
    reference: chr 3
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12012delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+25delT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+25delT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+25delT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+25delT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+25delT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+25delT
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43418
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: CT
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-160144010-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144010
    reference: chr 3
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+22T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12010A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+22T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+22T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+22T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+22T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+22T>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

3-160144011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144011
    reference: chr 3
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+23T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+23T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+23T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+23T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12009A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+23T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+23T>C
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-160144013-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144014
    reference: chr 3
allele count: 3
allele frequency: 2.487562189054726e-5
allele num: 120600
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+31dupG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12006dupC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+31dupG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+31dupG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+31dupG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+31dupG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+31dupG
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43514
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

3-160144013-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144012
    reference: chr 3
allele count: 49
allele frequency: 4.06301824212272e-4
allele num: 120600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+31delG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+31delG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+31delG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+31delG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+31delG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12006delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+31delG
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43514
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: TG
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

3-160144014-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144014
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144014
    reference: chr 3
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12006C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+26G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+26G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+26G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+26G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+26G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+26G>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-160144017-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144017
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144017
    reference: chr 3
allele count: 6
allele frequency: 4.973474801061008e-5
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+29G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+29G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+29G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+29G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12003C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+29G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+29G>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-160144019-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144020
    reference: chr 3
allele count: 560
allele frequency: 5.787754764562405e-3
allele num: 96756
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+41dupA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+41dupA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+41dupA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+41dupA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+41dupA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12000dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+41dupA
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 9.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 2.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.25e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

3-160144019-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144021
    reference: chr 3
allele count: 1
allele frequency: 1.033527636529001e-5
allele num: 96756
alternate allele: GAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+40_2605+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+40_2530+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+40_1828+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+40_2605+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+40_2605+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+40_2605+41dupAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11999_952+12000dupTT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-160144019-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144018
    reference: chr 3
allele count: 1713
allele frequency: 1.770432841374178e-2
allele num: 96756
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12000delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+41delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+41delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+41delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+41delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+41delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+41delA
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 9.75e1
  variant carriers: 1058
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 19
num of homozygotes: 12
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-160144019-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144015
    reference: chr 3
allele count: 1
allele frequency: 1.033527636529001e-5
allele num: 96756
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 54156
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7046
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.223684210526316e-5
  allele num: 12160
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7884
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
reference allele: GAAAA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-160144020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144020
    reference: chr 3
allele count: 422
allele frequency: 4.223547780135313e-3
allele num: 99916
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12000T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+32A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 9.75e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-160144020-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144020
    reference: chr 3
allele count: 1
allele frequency: 1.000840706193202e-5
allele num: 99916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+12000T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+32A>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+32A>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+32A>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+32A>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+32A>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+32A>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-160144021-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144021
    reference: chr 3
allele count: 55
allele frequency: 4.733218588640275e-4
allele num: 116200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+33A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+33A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+33A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+33A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+33A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11999T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+33A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

3-160144022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144022
    reference: chr 3
allele count: 6159
allele frequency: 5.108320615752106e-2
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11998T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+34A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+34A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+34A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+34A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+34A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+34A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 19006
  bin: 9.75e1
  variant carriers: 4584
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 4.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 6.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 5.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 8.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 214
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

3-160144022-AAAAAAAACAGGTTTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144006
    reference: chr 3
allele count: 150
allele frequency: 1.244111206953752e-3
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19006
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43751
  bin: 9.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 3
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: AAAAAAAACAGGTTTTT
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-160144029-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144029
    reference: chr 3
allele count: 203
allele frequency: 1.689245414905302e-3
allele num: 120172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+41A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+41A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+41A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11991T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+41A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+41A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+41A>C
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 9.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-160144029-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144030
    reference: chr 3
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+41_1828+42insG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+41_2605+42insG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+41_2605+42insG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+41_2530+42insG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+41_2605+42insG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11990_952+11991insC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+41_2605+42insG
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

3-160144032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160144032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160144032
    reference: chr 3
allele count: 1054
allele frequency: 8.776166130993022e-3
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2605+44G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+11988C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2605+44G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2530+44G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2605+44G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2605+44G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1828+44G>A
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 8.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17683
  bin: 9.75e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43210
  bin: 9.75e1
  variant carriers: 990
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 6.75e1
  variant carriers: 2
num of homozygotes: 62
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-160146490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146490
    reference: chr 3
allele count: 24
allele frequency: 2.36607054833685e-4
allele num: 101434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-51A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-51A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9530T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-51A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-51A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-51A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-51A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14092
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7969
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

3-160146495-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146495
    reference: chr 3
allele count: 1
allele frequency: 9.883766901241401e-6
allele num: 101176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9525G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-46C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-46C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-46C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-46C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-46C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-46C>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-160146495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146495
    reference: chr 3
allele count: 44
allele frequency: 4.348857436546216e-4
allele num: 101176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-46C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-46C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-46C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9525G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-46C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-46C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-46C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-160146496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146496
    reference: chr 3
allele count: 1
allele frequency: 9.825112988799371e-6
allele num: 101780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-45A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-45A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-45A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9524T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-45A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-45A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-45A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-160146514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146514
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146514
    reference: chr 3
allele count: 2
allele frequency: 1.905015906882822e-5
allele num: 104986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-27A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9506T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-27A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-27A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-27A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-27A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-27A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-160146518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146518
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146518
    reference: chr 3
allele count: 28
allele frequency: 2.622901678657074e-4
allele num: 106752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-23G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9502C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29797
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-160146519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146519
    reference: chr 3
allele count: 2
allele frequency: 1.864106626899059e-5
allele num: 107290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-22G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9501C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-22G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-22G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-22G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-22G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-22G>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-160146519-GTTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146515
    reference: chr 3
allele count: 30
allele frequency: 2.796159940348588e-4
allele num: 107290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-19_2531-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9497_952+9500delAGAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-19_2606-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-19_2606-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-19_2606-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-19_1829-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-19_2606-16delCTTT
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30499
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: GTTCT
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-160146522-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146522
    reference: chr 3
allele count: 3806
allele frequency: 3.473958998886435e-2
allele num: 109558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-19C>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-19C>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-19C>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-19C>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9498G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-19C>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-19C>A
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 2.75e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 30984
  bin: 2.25e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 3.25e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32520
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 90
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-160146522-CTTTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146518
    reference: chr 3
allele count: 1
allele frequency: 9.127585388561311e-6
allele num: 109558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-15_2606-12delATTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-15_2531-12delATTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-15_2606-12delATTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-15_2606-12delATTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-15_1829-12delATTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9494_952+9497delTAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-15_2606-12delATTT
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: CTTTA
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS

3-160146533-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146533
    reference: chr 3
allele count: 9
allele frequency: 7.798689820110221e-5
allele num: 115404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2606-8A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1829-8A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2606-8A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9487T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2606-8A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2606-8A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2531-8A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2606-8A>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-160146545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146545
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146545
    reference: chr 3
allele count: 58
allele frequency: 4.862916072776055e-4
allele num: 119270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2610T>C
  hgvsp: ENST00000462787.1:c.2610T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2610T>C
  hgvsp: ENST00000344722.5:c.2610T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2610T>C
  hgvsp: ENST00000360111.2:c.2610T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1833T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2535T>C
  hgvsp: ENST00000469762.1:c.2535T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9475A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2610T>C
  hgvsp: ENST00000357388.3:c.2610T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38280
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr870Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

3-160146555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146555
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146555
    reference: chr 3
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2620G>A
  hgvsp: ENSP00000353225.2:p.Ala874Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2620G>A
  hgvsp: ENSP00000349961.3:p.Ala874Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2620G>A
  hgvsp: ENSP00000341382.5:p.Ala874Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9465C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1843G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2620G>A
  hgvsp: ENSP00000420734.1:p.Ala874Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2545G>A
  hgvsp: ENSP00000417964.1:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala874Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-160146556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146556
    reference: chr 3
allele count: 5
allele frequency: 4.162989359399197e-5
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9464G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1844C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2621C>T
  hgvsp: ENSP00000349961.3:p.Ala874Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2546C>T
  hgvsp: ENSP00000417964.1:p.Ala849Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2621C>T
  hgvsp: ENSP00000420734.1:p.Ala874Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2621C>T
  hgvsp: ENSP00000353225.2:p.Ala874Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2621C>T
  hgvsp: ENSP00000341382.5:p.Ala874Val
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala874Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-160146579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146579
    reference: chr 3
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2644G>T
  hgvsp: ENSP00000349961.3:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2644G>T
  hgvsp: ENSP00000353225.2:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2569G>T
  hgvsp: ENSP00000417964.1:p.Ala857Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9441C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1867G>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2644G>T
  hgvsp: ENSP00000420734.1:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2644G>T
  hgvsp: ENSP00000341382.5:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala882Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-160146591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146591
    reference: chr 3
allele count: 8
allele frequency: 6.613319224918987e-5
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1879C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2581C>T
  hgvsp: ENSP00000417964.1:p.Arg861Cys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2656C>T
  hgvsp: ENSP00000420734.1:p.Arg886Cys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2656C>T
  hgvsp: ENSP00000341382.5:p.Arg886Cys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2656C>T
  hgvsp: ENSP00000349961.3:p.Arg886Cys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2656C>T
  hgvsp: ENSP00000353225.2:p.Arg886Cys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9429G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.8C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg886Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

3-160146592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146592
    reference: chr 3
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2657G>A
  hgvsp: ENSP00000420734.1:p.Arg886His
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2657G>A
  hgvsp: ENSP00000341382.5:p.Arg886His
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.9G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2657G>A
  hgvsp: ENSP00000353225.2:p.Arg886His
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2582G>A
  hgvsp: ENSP00000417964.1:p.Arg861His
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1880G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2657G>A
  hgvsp: ENSP00000349961.3:p.Arg886His
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9428C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg886His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-160146599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146599
    reference: chr 3
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2664C>T
  hgvsp: ENST00000462787.1:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1887C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2664C>T
  hgvsp: ENST00000360111.2:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2664C>T
  hgvsp: ENST00000357388.3:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.16C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2589C>T
  hgvsp: ENST00000469762.1:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2664C>T
  hgvsp: ENST00000344722.5:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9421G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6089
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His888His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

3-160146601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146601
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146601
    reference: chr 3
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2666A>G
  hgvsp: ENSP00000349961.3:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2666A>G
  hgvsp: ENSP00000353225.2:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9419T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2666A>G
  hgvsp: ENSP00000420734.1:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2666A>G
  hgvsp: ENSP00000341382.5:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2591A>G
  hgvsp: ENSP00000417964.1:p.Asn864Ser
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1889A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.18A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn889Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-160146606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146606
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146606
    reference: chr 3
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2671A>G
  hgvsp: ENSP00000341382.5:p.Ile891Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.23A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2671A>G
  hgvsp: ENSP00000353225.2:p.Ile891Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1894A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2596A>G
  hgvsp: ENSP00000417964.1:p.Ile866Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2671A>G
  hgvsp: ENSP00000349961.3:p.Ile891Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2671A>G
  hgvsp: ENSP00000420734.1:p.Ile891Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9414T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile891Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

3-160146608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146608
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146608
    reference: chr 3
allele count: 8
allele frequency: 6.605674274201539e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1896C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2673C>T
  hgvsp: ENST00000344722.5:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9412G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2673C>T
  hgvsp: ENST00000357388.3:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.25C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2673C>T
  hgvsp: ENST00000360111.2:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2598C>T
  hgvsp: ENST00000469762.1:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2673C>T
  hgvsp: ENST00000462787.1:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile891Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-160146609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146609
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146609
    reference: chr 3
allele count: 4
allele frequency: 3.302618976848641e-5
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2674G>A
  hgvsp: ENSP00000353225.2:p.Val892Ile
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1897G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9411C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.26G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2674G>A
  hgvsp: ENSP00000420734.1:p.Val892Ile
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2674G>A
  hgvsp: ENSP00000341382.5:p.Val892Ile
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2599G>A
  hgvsp: ENSP00000417964.1:p.Val867Ile
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2674G>A
  hgvsp: ENSP00000349961.3:p.Val892Ile
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val892Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-160146615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146615
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146615
    reference: chr 3
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1903A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.32A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2680A>G
  hgvsp: ENSP00000349961.3:p.Ile894Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2680A>G
  hgvsp: ENSP00000341382.5:p.Ile894Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9405T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2605A>G
  hgvsp: ENSP00000417964.1:p.Ile869Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2680A>G
  hgvsp: ENSP00000420734.1:p.Ile894Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2680A>G
  hgvsp: ENSP00000353225.2:p.Ile894Val
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile894Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

3-160146618-AATAATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146618
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146612
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2688_2693delTCATAA
  hgvsp: ENSP00000349961.3:p.Asn896_His897del
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2688_2693delTCATAA
  hgvsp: ENSP00000353225.2:p.Asn896_His897del
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2613_2618delTCATAA
  hgvsp: ENSP00000417964.1:p.Asn871_His872del
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.40_45delTCATAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2688_2693delTCATAA
  hgvsp: ENSP00000341382.5:p.Asn896_His897del
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2688_2693delTCATAA
  hgvsp: ENSP00000420734.1:p.Asn896_His897del
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1911_1916delTCATAA
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn896_His897del
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: AATAATC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

3-160146623-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146623
    reference: chr 3
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2688T>G
  hgvsp: ENSP00000353225.2:p.Asn896Lys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2688T>G
  hgvsp: ENSP00000420734.1:p.Asn896Lys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9397A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2688T>G
  hgvsp: ENSP00000341382.5:p.Asn896Lys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2688T>G
  hgvsp: ENSP00000349961.3:p.Asn896Lys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.40T>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2613T>G
  hgvsp: ENSP00000417964.1:p.Asn871Lys
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1911T>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn896Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

3-160146624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146624
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146624
    reference: chr 3
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.41C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2689C>G
  hgvsp: ENSP00000420734.1:p.His897Asp
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2689C>G
  hgvsp: ENSP00000349961.3:p.His897Asp
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2614C>G
  hgvsp: ENSP00000417964.1:p.His872Asp
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2689C>G
  hgvsp: ENSP00000353225.2:p.His897Asp
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2689C>G
  hgvsp: ENSP00000341382.5:p.His897Asp
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1912C>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9396G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His897Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-160146626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146626
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146626
    reference: chr 3
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.43T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2691T>C
  hgvsp: ENST00000462787.1:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2691T>C
  hgvsp: ENST00000360111.2:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2616T>C
  hgvsp: ENST00000469762.1:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1914T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2691T>C
  hgvsp: ENST00000344722.5:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2691T>C
  hgvsp: ENST00000357388.3:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9394A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His897His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-160146630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146630
    reference: chr 3
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2695C>T
  hgvsp: ENSP00000420734.1:p.Leu899Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2695C>T
  hgvsp: ENSP00000353225.2:p.Leu899Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2695C>T
  hgvsp: ENSP00000341382.5:p.Leu899Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2695C>T
  hgvsp: ENSP00000349961.3:p.Leu899Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1918C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9390G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2620C>T
  hgvsp: ENSP00000417964.1:p.Leu874Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.47C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu899Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-160146649-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146649
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146649
    reference: chr 3
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2714A>C
  hgvsp: ENSP00000341382.5:p.Lys905Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9371T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2714A>C
  hgvsp: ENSP00000349961.3:p.Lys905Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.66A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1937A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2714A>C
  hgvsp: ENSP00000420734.1:p.Lys905Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2639A>C
  hgvsp: ENSP00000417964.1:p.Lys880Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2714A>C
  hgvsp: ENSP00000353225.2:p.Lys905Thr
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys905Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-160146650-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146650
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146650
    reference: chr 3
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.67A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1938A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2640A>C
  hgvsp: ENSP00000417964.1:p.Lys880Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2715A>C
  hgvsp: ENSP00000341382.5:p.Lys905Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9370T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2715A>C
  hgvsp: ENSP00000349961.3:p.Lys905Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2715A>C
  hgvsp: ENSP00000353225.2:p.Lys905Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2715A>C
  hgvsp: ENSP00000420734.1:p.Lys905Asn
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys905Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-160146651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146651
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146651
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.68C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2641C>T
  hgvsp: ENSP00000417964.1:p.Leu881Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2716C>T
  hgvsp: ENSP00000341382.5:p.Leu906Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2716C>T
  hgvsp: ENSP00000353225.2:p.Leu906Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2716C>T
  hgvsp: ENSP00000420734.1:p.Leu906Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9369G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2716C>T
  hgvsp: ENSP00000349961.3:p.Leu906Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1939C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu906Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-160146654-GATAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146654
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146649
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2725_2729delATAAA
  hgvsp: ENSP00000349961.3:p.Ile909Ter
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.77_81delATAAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2725_2729delATAAA
  hgvsp: ENSP00000420734.1:p.Ile909Ter
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2650_2654delATAAA
  hgvsp: ENSP00000417964.1:p.Ile884Ter
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2725_2729delATAAA
  hgvsp: ENSP00000353225.2:p.Ile909Ter
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2725_2729delATAAA
  hgvsp: ENSP00000341382.5:p.Ile909Ter
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9361_952+9365delTTTAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1948_1952delATAAA
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile909Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GATAAA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-160146657-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146657
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146653
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.81_84delATAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2654_2657delATAA
  hgvsp: ENSP00000417964.1:p.Asn885SerfsTer3
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1952_1955delATAA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2729_2732delATAA
  hgvsp: ENSP00000420734.1:p.Asn910SerfsTer3
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2729_2732delATAA
  hgvsp: ENSP00000353225.2:p.Asn910SerfsTer3
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2729_2732delATAA
  hgvsp: ENSP00000341382.5:p.Asn910SerfsTer3
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9359_952+9362delATTT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2729_2732delATAA
  hgvsp: ENSP00000349961.3:p.Asn910SerfsTer3
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn910SerfsTer3
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: AAAAT
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-160146666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146666
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2731A>G
  hgvsp: ENSP00000353225.2:p.Lys911Glu
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2731A>G
  hgvsp: ENSP00000349961.3:p.Lys911Glu
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.83A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2731A>G
  hgvsp: ENSP00000341382.5:p.Lys911Glu
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1954A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2656A>G
  hgvsp: ENSP00000417964.1:p.Lys886Glu
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9354T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2731A>G
  hgvsp: ENSP00000420734.1:p.Lys911Glu
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys911Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-160146671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146671
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146671
    reference: chr 3
allele count: 121
allele frequency: 9.983004141709156e-4
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9349T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2736A>G
  hgvsp: ENST00000357388.3:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2736A>G
  hgvsp: ENST00000344722.5:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2736A>G
  hgvsp: ENST00000462787.1:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.88A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2736A>G
  hgvsp: ENST00000360111.2:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2661A>G
  hgvsp: ENST00000469762.1:c.2661A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1959A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln912Gln
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-160146675-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146674
    reference: chr 3
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2741delA
  hgvsp: ENSP00000420734.1:p.Asp914ValfsTer12
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.93delA
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2741delA
  hgvsp: ENSP00000349961.3:p.Asp914ValfsTer12
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2741delA
  hgvsp: ENSP00000341382.5:p.Asp914ValfsTer12
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2741delA
  hgvsp: ENSP00000353225.2:p.Asp914ValfsTer12
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9344delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2666delA
  hgvsp: ENSP00000417964.1:p.Asp889ValfsTer12
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1964delA
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp914ValfsTer12
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

3-160146685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146685
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146685
    reference: chr 3
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2675C>T
  hgvsp: ENSP00000417964.1:p.Ala892Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2750C>T
  hgvsp: ENSP00000420734.1:p.Ala917Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2750C>T
  hgvsp: ENSP00000349961.3:p.Ala917Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2750C>T
  hgvsp: ENSP00000353225.2:p.Ala917Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9335G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.102C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1973C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2750C>T
  hgvsp: ENSP00000341382.5:p.Ala917Val
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala917Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

3-160146688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146688
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146688
    reference: chr 3
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2678C>T
  hgvsp: ENSP00000417964.1:p.Ser893Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1976C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2753C>T
  hgvsp: ENSP00000341382.5:p.Ser918Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9332G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2753C>T
  hgvsp: ENSP00000420734.1:p.Ser918Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2753C>T
  hgvsp: ENSP00000349961.3:p.Ser918Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2753C>T
  hgvsp: ENSP00000353225.2:p.Ser918Phe
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.105C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser918Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-160146693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146693
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146693
    reference: chr 3
allele count: 3
allele frequency: 2.480445818795165e-5
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2758A>G
  hgvsp: ENSP00000420734.1:p.Ile920Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2683A>G
  hgvsp: ENSP00000417964.1:p.Ile895Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9327T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2758A>G
  hgvsp: ENSP00000353225.2:p.Ile920Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2758A>G
  hgvsp: ENSP00000341382.5:p.Ile920Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2758A>G
  hgvsp: ENSP00000349961.3:p.Ile920Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.110A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1981A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile920Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-160146694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146694
    reference: chr 3
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2759T>C
  hgvsp: ENSP00000353225.2:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.111T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2759T>C
  hgvsp: ENSP00000420734.1:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.1982T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9326A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2759T>C
  hgvsp: ENSP00000341382.5:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2759T>C
  hgvsp: ENSP00000349961.3:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2684T>C
  hgvsp: ENSP00000417964.1:p.Ile895Thr
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile920Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-160146714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146714
    reference: chr 3
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2779A>G
  hgvsp: ENSP00000341382.5:p.Ile927Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9306T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2002A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2779A>G
  hgvsp: ENSP00000353225.2:p.Ile927Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2779A>G
  hgvsp: ENSP00000349961.3:p.Ile927Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.131A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2779A>G
  hgvsp: ENSP00000420734.1:p.Ile927Val
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2704A>G
  hgvsp: ENSP00000417964.1:p.Ile902Val
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile927Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-160146718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146718
    reference: chr 3
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2708A>C
  hgvsp: ENSP00000417964.1:p.Lys903Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.135A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2006A>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9302T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2783A>C
  hgvsp: ENSP00000420734.1:p.Lys928Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2783A>C
  hgvsp: ENSP00000341382.5:p.Lys928Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2783A>C
  hgvsp: ENSP00000349961.3:p.Lys928Thr
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2783A>C
  hgvsp: ENSP00000353225.2:p.Lys928Thr
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys928Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-160146726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146726
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146726
    reference: chr 3
allele count: 3
allele frequency: 2.522322554608283e-5
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2716G>A
  hgvsp: ENSP00000417964.1:p.Asp906Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2014G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2791G>A
  hgvsp: ENSP00000353225.2:p.Asp931Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2791G>A
  hgvsp: ENSP00000349961.3:p.Asp931Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2791G>A
  hgvsp: ENSP00000341382.5:p.Asp931Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.143G>A
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2791G>A
  hgvsp: ENSP00000420734.1:p.Asp931Asn
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9294C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp931Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

3-160146737-TATGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146737
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146733
    reference: chr 3
allele count: 3
allele frequency: 2.544011397171059e-5
allele num: 117924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2720+11_2720+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2795+11_2795+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2018+11_2018+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2795+11_2795+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2795+11_2795+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2795+11_2795+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.147+11_147+14delCATG
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9279_952+9282delGCAT
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2795+11_2795+14delCATG
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TATGC
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-160146741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146741
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146741
    reference: chr 3
allele count: 3
allele frequency: 2.552887315553891e-5
allele num: 117514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9279G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2795+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2018+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2795+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2795+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.147+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2795+11C>T
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2720+11C>T
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-160146742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146742
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146742
    reference: chr 3
allele count: 4
allele frequency: 3.407096983015622e-5
allele num: 117402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2018+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2795+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2795+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2720+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2795+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9278T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.147+12A>G
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2795+12A>G
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

3-160146743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146743
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146743
    reference: chr 3
allele count: 3
allele frequency: 2.555018055460925e-5
allele num: 117416
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9277A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2795+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.147+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2795+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2720+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2795+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2018+13T>C
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2795+13T>C
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-160146750-CTAACT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146750
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 160146745
    reference: chr 3
allele count: 1
allele frequency: 8.565017044383918e-6
allele num: 116754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000462668
  gene symbol: SMC4
  hgvsc: ENST00000462668.1:n.2018+22_2018+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000349961
  ensembl transcript: ENST00000357388
  gene symbol: SMC4
  hgvsc: ENST00000357388.3:c.2795+22_2795+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000420734
  ensembl transcript: ENST00000462787
  gene symbol: SMC4
  hgvsc: ENST00000462787.1:c.2795+22_2795+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl transcript: ENST00000488017
  gene symbol: SMC4
  hgvsc: ENST00000488017.1:n.147+22_147+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000353225
  ensembl transcript: ENST00000360111
  gene symbol: SMC4
  hgvsc: ENST00000360111.2:c.2795+22_2795+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248710
  ensembl protein: ENSP00000456272
  ensembl transcript: ENST00000483754
  gene symbol: RP11-432B6.3
  hgvsc: ENST00000483754.1:c.952+9265_952+9269delAGTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000417964
  ensembl transcript: ENST00000469762
  gene symbol: SMC4
  hgvsc: ENST00000469762.1:c.2720+22_2720+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000113810
  ensembl protein: ENSP00000341382
  ensembl transcript: ENST00000344722
  gene symbol: SMC4
  hgvsc: ENST00000344722.5:c.2795+22_2795+26delAACTT
  variant of: http://identifiers.org/hgnc/14013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: CTAACT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-160146752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 160146752
    reference: chr 3
allele count: 1
allele frequency: 8.569861511037982e-6
allele num: 116688
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43422
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 10116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.813473e6

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.437e0

GenotypeQuality
all individuals: 264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 3.813508e6

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.955e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.45e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

FS
type: SiteQuality
SIO_000300: 4.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

DP
type: SiteQuality
SIO_000300: 3.811368e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -1.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 335
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GenotypeQuality
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bin: 6.25e1
variant carriers: 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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.635041802980734e-4
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.679e1

FS
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 3.807404e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 5.24e0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 4.839e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 3.806622e6

MQ
type: SiteQuality
SIO_000300: 6.026e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 3.806389e6

FS
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.049e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 2303
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
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variant carriers: 0

GenotypeQuality
all individuals: 43423
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 3.805966e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

FS
type: SiteQuality
SIO_000300: 1.621e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e0

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
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: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 1.849e0

DP
type: SiteQuality
SIO_000300: 3.809352e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 2.90838584585555e-3
allele num: 16504
num of homozygotes: 1

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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.809352e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

FS
type: SiteQuality
SIO_000300: 1.849e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 8.25e1
variant carriers: 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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 3.800611e6

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 43467
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
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: 66572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
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: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 1.932e0

QD
type: SiteQuality
SIO_000300: 7.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.047e0

VQSLOD
type: SiteQuality
SIO_000300: -4.201e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

DP
type: SiteQuality
SIO_000300: 3.810749e6

GenotypeQuality
all individuals: 2568
bin: 6.25e1
variant carriers: 22

GenotypeQuality
all individuals: 1277
bin: 2.75e1
variant carriers: 62

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1028
bin: 5.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 99

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1342
bin: 3.25e1
variant carriers: 62

GenotypeQuality
all individuals: 1342
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 27807
bin: 9.75e1
variant carriers: 109

East Asian
type: Population
allele count: 39
allele frequency: 5.535055350553505e-3
allele num: 7046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.990688393747921e-3
allele num: 6014
num of homozygotes: 0

South Asian
type: Population
allele count: 235
allele frequency: 1.932565789473684e-2
allele num: 12160
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 8.403361344537815e-3
allele num: 714
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 3.871555454338419e-3
allele num: 8782
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 4.439370877727042e-3
allele num: 7884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 187
allele frequency: 3.452987665263313e-3
allele num: 54156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 5.275665e6

QD
type: SiteQuality
SIO_000300: 6.52e0

GenotypeQuality
all individuals: 1152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27807
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.846517468055248e-5
allele num: 54156
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.52e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 5.275665e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

GenotypeQuality
all individuals: 1342
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1171
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1124
bin: 7.5e0
variant carriers: 16

GenotypeQuality
all individuals: 1589
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1152
bin: 4.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1459
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 27807
bin: 9.75e1
variant carriers: 1542

GenotypeQuality
all individuals: 1384
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 12

Latino
type: Population
allele count: 35
allele frequency: 3.985424732407197e-3
allele num: 8782
num of homozygotes: 1

Other
type: Population
allele count: 12
allele frequency: 1.680672268907563e-2
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 240
allele frequency: 3.0441400304414e-2
allele num: 7884
num of homozygotes: 2

East Asian
type: Population
allele count: 250
allele frequency: 3.548112404200965e-2
allele num: 7046
num of homozygotes: 3

South Asian
type: Population
allele count: 127
allele frequency: 1.044407894736842e-2
allele num: 12160
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 907
allele frequency: 1.67479134352611e-2
allele num: 54156
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 142
allele frequency: 2.361157299634187e-2
allele num: 6014
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 5.275665e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.74e-2

QD
type: SiteQuality
SIO_000300: 6.52e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.74e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 6.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

FS
type: SiteQuality
SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 5.275665e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

GenotypeQuality
all individuals: 3475
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 572
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32100
bin: 9.75e1
variant carriers: 416

GenotypeQuality
all individuals: 645
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 35
allele frequency: 4.462009178990311e-3
allele num: 7844
num of homozygotes: 1

East Asian
type: Population
allele count: 110
allele frequency: 1.542776998597475e-2
allele num: 7130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 212
allele frequency: 3.781392694063927e-3
allele num: 56064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.661681621801263e-3
allele num: 6018
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 2.899951667472209e-3
allele num: 12414
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.021447721179625e-3
allele num: 746
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.649484536082474e-3
allele num: 9700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.988e0

DP
type: SiteQuality
SIO_000300: 4.329742e6

GenotypeQuality
all individuals: 572
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.783675799086758e-5
allele num: 56064
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.988e0

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.329742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 1911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40729
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 2366
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560208443848098e-5
allele num: 64094
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.369101712687871e-4
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 5.289291882556131e-3
allele num: 9264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.078e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 4.593419e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 1.737e0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43751
bin: 9.75e1
variant carriers: 5941

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3679
allele frequency: 5.530667468430547e-2
allele num: 66520
num of homozygotes: 113

African
type: Population
allele count: 210
allele frequency: 2.138057422113622e-2
allele num: 9822
num of homozygotes: 5

Other
type: Population
allele count: 55
allele frequency: 6.111111111111111e-2
allele num: 900
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 850
allele frequency: 1.285152706380405e-1
allele num: 6614
num of homozygotes: 63

South Asian
type: Population
allele count: 771
allele frequency: 4.67442706438705e-2
allele num: 16494
num of homozygotes: 18

Latino
type: Population
allele count: 205
allele frequency: 1.771211335752549e-2
allele num: 11574
num of homozygotes: 1

East Asian
type: Population
allele count: 389
allele frequency: 4.50023137436372e-2
allele num: 8644
num of homozygotes: 12

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.66e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 4.926793e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

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

GenotypeQuality
all individuals: 1584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 143
allele frequency: 1.455915292201181e-2
allele num: 9822
num of homozygotes: 3

Latino
type: Population
allele count: 5
allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

DP
type: SiteQuality
SIO_000300: 4.926793e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

QD
type: SiteQuality
SIO_000300: 1.66e1

GenotypeQuality
all individuals: 254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42953
bin: 9.75e1
variant carriers: 200

GenotypeQuality
all individuals: 1924
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.018657839301836e-5
allele num: 66460
num of homozygotes: 0

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

African
type: Population
allele count: 191
allele frequency: 2.005881117412308e-2
allele num: 9522
num of homozygotes: 2

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.191209551825575e-4
allele num: 11558
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 4.708157e6

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1911
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 6.25e1
variant carriers: 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: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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: 9522
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.708157e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3261
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1960
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1723
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 1

African
type: Population
allele count: 996
allele frequency: 1.047759309909531e-1
allele num: 9506
num of homozygotes: 62

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.201245890292438e-3
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.108370229812355e-4
allele num: 66402
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.651884700665188e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.72e-2

DP
type: SiteQuality
SIO_000300: 4.720375e6

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

GenotypeQuality
all individuals: 2273
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 854
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6896
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14840
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.832256651702617e-4
allele num: 54798
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.111486486486487e-4
allele num: 9472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.383e1

FS
type: SiteQuality
SIO_000300: 3.054e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.137383e6

GenotypeQuality
all individuals: 3805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.750371270419872e-5
allele num: 14814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.148363e6

GenotypeQuality
all individuals: 3682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14814
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 5.132991133924405e-3
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.148363e6

GenotypeQuality
all individuals: 3766
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11213
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.045587620242576e-4
allele num: 9564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 3.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.151515e6

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 9.07e0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.267059623668102e-4
allele num: 8822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 6.766e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -3.624e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.311451e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 3825
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 6948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.120573733751681e-4
allele num: 8924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 4.143074161027482e-4
allele num: 57928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.766444232602478e-4
allele num: 6294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 1.358999e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

GenotypeQuality
all individuals: 32251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58218
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.513809275664408e-5
allele num: 15352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.581e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

MQRankSum
type: SiteQuality
SIO_000300: -1.009e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

DP
type: SiteQuality
SIO_000300: 1.370356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.108463434675431e-4
allele num: 7302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.207729468599034e-3
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.202377271634203e-4
allele num: 58218
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.172485669619594e-3
allele num: 15352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQ
type: SiteQuality
SIO_000300: 5.581e1

MQRankSum
type: SiteQuality
SIO_000300: -1.009e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 1.370356e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 360
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5452
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4470
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1347
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 964
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 7087
bin: 9.75e1
variant carriers: 3634

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 12

Other
type: Population
allele count: 36
allele frequency: 4.265402843601896e-2
allele num: 844
num of homozygotes: 1

South Asian
type: Population
allele count: 275
allele frequency: 1.773507029536953e-2
allele num: 15506
num of homozygotes: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.333688983728994e-4
allele num: 7498
num of homozygotes: 0

Latino
type: Population
allele count: 136
allele frequency: 1.291302696543866e-2
allele num: 10532
num of homozygotes: 1

African
type: Population
allele count: 60
allele frequency: 6.628369421122404e-3
allele num: 9052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 617
allele frequency: 9.628589263420724e-2
allele num: 6408
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 2681
allele frequency: 4.489433671589806e-2
allele num: 59718
num of homozygotes: 49

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.446012e6

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

GenotypeQuality
all individuals: 7087
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.494872768704899e-5
allele num: 10532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.446012e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4230
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
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: 0
allele frequency: 0.0e0
allele num: 63266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.607476635514019e-4
allele num: 16050
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.553e1

DP
type: SiteQuality
SIO_000300: 1.515511e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 42358
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variant carriers: 0

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

GenotypeQuality
all individuals: 797
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variant carriers: 0

GenotypeQuality
all individuals: 2102
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variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.01461038961039e-4
allele num: 9856
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.53450377956596e-4
allele num: 65616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.560512e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.483e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

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

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42671
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 2135
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variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 1.567746e6

MQRankSum
type: SiteQuality
SIO_000300: -1.166e0

VQSLOD
type: SiteQuality
SIO_000300: -7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42706
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 563
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variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6026
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66076
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: 10054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.045437933974906e-4
allele num: 16418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.124e0

DP
type: SiteQuality
SIO_000300: 1.568412e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 6.378e0

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

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

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 563
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variant carriers: 0

GenotypeQuality
all individuals: 1848
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 2152
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GenotypeQuality
all individuals: 6073
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variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.408e-1

DP
type: SiteQuality
SIO_000300: 1.575214e6

QD
type: SiteQuality
SIO_000300: 8.91e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 6089
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 4.856726566294317e-4
allele num: 16472
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 10294
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 1.577263e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 1.154e0

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 217
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 6086
bin: 6.75e1
variant carriers: 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: 2
allele frequency: 3.006885768409658e-5
allele num: 66514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 8638
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.577322e6

FS
type: SiteQuality
SIO_000300: 1.794e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 183
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 803
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GenotypeQuality
all individuals: 4263
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variant carriers: 1

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
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: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

DP
type: SiteQuality
SIO_000300: 1.577865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.103e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4265
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1445
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
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: 6.070171178827243e-5
allele num: 16474
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: -5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

DP
type: SiteQuality
SIO_000300: 1.578057e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
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: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
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: -1.631e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

DP
type: SiteQuality
SIO_000300: 1.578321e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.607e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.658e0

MQRankSum
type: SiteQuality
SIO_000300: -1.079e0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43243
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.248088360237893e-4
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

DP
type: SiteQuality
SIO_000300: 1.578856e6

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

GenotypeQuality
all individuals: 6090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 2151
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 801
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4265
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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: 2
allele frequency: 1.933488012374323e-4
allele num: 10344
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 1.096e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.578871e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
all individuals: 6093
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 1.608e1

DP
type: SiteQuality
SIO_000300: 1.579041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.144e0

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
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: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.981e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.42e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 5.75e0

DP
type: SiteQuality
SIO_000300: 1.579105e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
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: 10366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

DP
type: SiteQuality
SIO_000300: 1.579389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.637e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 802
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4265
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.579493e6

VQSLOD
type: SiteQuality
SIO_000300: -4.04e-2

FS
type: SiteQuality
SIO_000300: 3.504e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.676e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 43293
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
all individuals: 565
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GenotypeQuality
all individuals: 11
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variant carriers: 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: 16490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Other
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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QD
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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South Asian
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East Asian
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allele num: 8648
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African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

East Asian
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African
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South Asian
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European (Finnish)
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66640
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66636
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
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DP
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QD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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QD
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VQSLOD
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MQ
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FS
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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South Asian
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Latino
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ReadPosRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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South Asian
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allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.736e0

MQ
type: SiteQuality
SIO_000300: 6.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

DP
type: SiteQuality
SIO_000300: 1.581654e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.241e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 10378
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

DP
type: SiteQuality
SIO_000300: 1.579266e6

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.913e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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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: 66534
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.225940909648155e-4
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.329e1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.575385e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.938e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16280
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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: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.377e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e0

DP
type: SiteQuality
SIO_000300: 1.574937e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

Latino
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South Asian
type: Population
allele count: 0
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allele num: 15692
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.137e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
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Latino
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Other
type: Population
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FS
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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QD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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FS
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InbreedingCoeff
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QD
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MQ
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

DP
type: SiteQuality
SIO_000300: 1.502185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 6.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 621
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.155482109498491e-4
allele num: 13918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.295e0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 1.498203e6

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.180812868016659e-5
allele num: 13926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
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: 2
allele frequency: 3.049524274213223e-5
allele num: 65584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.498031e6

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e0

GenotypeQuality
all individuals: 5343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38184
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 746
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 1.488365e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.468e1

FS
type: SiteQuality
SIO_000300: 3.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1