8-22424559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424559
    reference: chr 8
allele count: 1
allele frequency: 8.431561019207096e-6
allele num: 118602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1922-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.165-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.165-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.165-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.345-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.9C>T
  hgvsp: ENST00000523348.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.126G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.205-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.165-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.581-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.165-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1191-15C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.512-15C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu3Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-22424560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424560
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424560
    reference: chr 8
allele count: 12
allele frequency: 1.010135021381191e-4
allele num: 118796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.581-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.10G>A
  hgvsp: ENSP00000428678.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.512-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.165-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.345-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1922-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.165-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.165-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.125C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.165-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1191-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.205-14G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.165-14G>A
  variant of: http://identifiers.org/hgnc/30907
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val4Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-22424564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424564
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424564
    reference: chr 8
allele count: 2
allele frequency: 1.678049435336365e-5
allele num: 119186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1191-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.205-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.512-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.121G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.345-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1922-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.165-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.165-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.165-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.581-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.14C>T
  hgvsp: ENSP00000428678.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.165-10C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.165-10C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

8-22424568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424568
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424568
    reference: chr 8
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.165-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.165-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.117G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.345-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1191-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.165-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.205-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.165-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1922-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.512-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.18C>T
  hgvsp: ENST00000523348.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.581-6C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.165-6C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1191-6C>T
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

8-22424570-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424570
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424570
    reference: chr 8
allele count: 4
allele frequency: 3.344201989800184e-5
allele num: 119610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.512-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.165-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.165-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.165-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.581-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.205-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1922-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.165-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.20G>T
  hgvsp: ENSP00000428678.1:p.Cys7Phe
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1191-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.165-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.345-4G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.115C>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys7Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-22424582-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424582
    reference: chr 8
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.173C>A
  hgvsp: ENSP00000429479.1:p.Thr58Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.589C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.173C>A
  hgvsp: ENSP00000408476.1:p.Thr58Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.32C>A
  hgvsp: ENSP00000428678.1:p.Thr11Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1930C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.173C>A
  hgvsp: ENSP00000429887.1:p.Thr58Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.353C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.213C>A
  hgvsp: ENSP00000429058.1:p.Thr72Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.173C>A
  hgvsp: ENSP00000429764.1:p.Thr58Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1199C>A
  hgvsp: ENSP00000240123.7:p.Thr400Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.520C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.173C>A
  hgvsp: ENSP00000431128.1:p.Thr58Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.103G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr400Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-22424593-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424593
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424593
    reference: chr 8
allele count: 7
allele frequency: 5.803926771026797e-5
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.184G>T
  hgvsp: ENSP00000429479.1:p.Gly62Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.184G>T
  hgvsp: ENSP00000408476.1:p.Gly62Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.184G>T
  hgvsp: ENSP00000429887.1:p.Gly62Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.364G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.224G>T
  hgvsp: ENSP00000429058.1:p.Gly76Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.184G>T
  hgvsp: ENSP00000429764.1:p.Gly62Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.600G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.43G>T
  hgvsp: ENSP00000428678.1:p.Gly15Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.92C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1941G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1210G>T
  hgvsp: ENSP00000240123.7:p.Gly404Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.184G>T
  hgvsp: ENSP00000431128.1:p.Gly62Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.531G>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly404Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

8-22424595-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424595
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424595
    reference: chr 8
allele count: 602
allele frequency: 4.991625346179997e-3
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.45T>A
  hgvsp: ENST00000523348.1:c.45T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.186T>A
  hgvsp: ENST00000428103.1:c.186T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.533T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.186T>A
  hgvsp: ENST00000523965.1:c.186T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.90A>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.226T>A
  hgvsp: ENST00000521554.1:c.226T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.186T>A
  hgvsp: ENST00000518912.1:c.186T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.602T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.186T>A
  hgvsp: ENST00000522721.1:c.186T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1943T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.186T>A
  hgvsp: ENST00000523900.1:c.186T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.366T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1212T>A
  hgvsp: ENST00000240123.7:c.1212T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 210
genotype quality: GenotypeQuality
hgvs: p.Gly404Gly
num of homozygotes: 19
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

8-22424601-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424601
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424601
    reference: chr 8
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.51T>A
  hgvsp: ENST00000523348.1:c.51T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.84A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1949T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.192T>A
  hgvsp: ENST00000523965.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.232T>A
  hgvsp: ENST00000521554.1:c.232T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1218T>A
  hgvsp: ENST00000240123.7:c.1218T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.372T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.192T>A
  hgvsp: ENST00000518912.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.192T>A
  hgvsp: ENST00000523900.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.192T>A
  hgvsp: ENST00000428103.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.192T>A
  hgvsp: ENST00000522721.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.608T>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.539T>A
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile406Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-22424603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424603
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424603
    reference: chr 8
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.194T>C
  hgvsp: ENSP00000429887.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.53T>C
  hgvsp: ENSP00000428678.1:p.Val18Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1220T>C
  hgvsp: ENSP00000240123.7:p.Val407Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.610T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.194T>C
  hgvsp: ENSP00000431128.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.194T>C
  hgvsp: ENSP00000429764.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.194T>C
  hgvsp: ENSP00000429479.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.234T>C
  hgvsp: ENSP00000429058.1:p.Val79Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.194T>C
  hgvsp: ENSP00000408476.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.541T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.82A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1951T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.374T>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val407Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-22424604-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424604
    reference: chr 8
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.611C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.54C>G
  hgvsp: ENST00000523348.1:c.54C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.542C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.81G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1952C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.235C>G
  hgvsp: ENST00000521554.1:c.235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.195C>G
  hgvsp: ENST00000523900.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.195C>G
  hgvsp: ENST00000523965.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.195C>G
  hgvsp: ENST00000518912.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1221C>G
  hgvsp: ENST00000240123.7:c.1221C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.195C>G
  hgvsp: ENST00000428103.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.375C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.195C>G
  hgvsp: ENST00000522721.1:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val407Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-22424619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424619
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424619
    reference: chr 8
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.390G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.210G>A
  hgvsp: ENST00000523900.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1236G>A
  hgvsp: ENST00000240123.7:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.210G>A
  hgvsp: ENST00000523965.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.557G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.250G>A
  hgvsp: ENST00000521554.1:c.250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.210G>A
  hgvsp: ENST00000428103.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.210G>A
  hgvsp: ENST00000522721.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.69G>A
  hgvsp: ENST00000523348.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.626G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.210G>A
  hgvsp: ENST00000518912.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.66C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1967G>A
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu412Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-22424620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424620
    reference: chr 8
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.211G>A
  hgvsp: ENSP00000429887.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.391G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1237G>A
  hgvsp: ENSP00000240123.7:p.Val413Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.65C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000522315
  gene symbol: SORBS3
  hgvsc: ENST00000522315.1:n.558G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.627G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.251G>A
  hgvsp: ENSP00000429058.1:p.Val85Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1968G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.211G>A
  hgvsp: ENSP00000408476.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.211G>A
  hgvsp: ENSP00000431128.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.70G>A
  hgvsp: ENSP00000428678.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.211G>A
  hgvsp: ENSP00000429479.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.211G>A
  hgvsp: ENSP00000429764.1:p.Val71Met
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val413Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

8-22424639-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424639
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424638
    reference: chr 8
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.273delG
  hgvsp: ENSP00000429058.1:p.Gly92GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.233delG
  hgvsp: ENSP00000429764.1:p.Gly78GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.233delG
  hgvsp: ENSP00000429479.1:p.Gly78GlufsTer?
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1259delG
  hgvsp: ENSP00000240123.7:p.Gly420GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1990delG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.649delG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.233delG
  hgvsp: ENSP00000431128.1:p.Gly78GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.45delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.233delG
  hgvsp: ENSP00000429887.1:p.Gly78GlufsTer?
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.92delG
  hgvsp: ENSP00000428678.1:p.Gly31GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.413delG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.233delG
  hgvsp: ENSP00000408476.1:p.Gly78GlufsTer64
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly420GlufsTer64
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: AG
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

8-22424647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424647
    reference: chr 8
allele count: 8
allele frequency: 6.643083719462574e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.238C>T
  hgvsp: ENSP00000408476.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1264C>T
  hgvsp: ENSP00000240123.7:p.His422Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.278C>T
  hgvsp: ENSP00000429058.1:p.His94Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.38G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.238C>T
  hgvsp: ENSP00000429887.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.97C>T
  hgvsp: ENSP00000428678.1:p.His33Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.418C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.238C>T
  hgvsp: ENSP00000429764.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.238C>T
  hgvsp: ENSP00000431128.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.238C>T
  hgvsp: ENSP00000429479.1:p.His80Tyr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.654C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His422Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

8-22424648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424648
    reference: chr 8
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.239A>G
  hgvsp: ENSP00000429887.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1265A>G
  hgvsp: ENSP00000240123.7:p.His422Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.655A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.239A>G
  hgvsp: ENSP00000429764.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.1996A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.279A>G
  hgvsp: ENSP00000429058.1:p.His94Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.37T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.98A>G
  hgvsp: ENSP00000428678.1:p.His33Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.239A>G
  hgvsp: ENSP00000431128.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.239A>G
  hgvsp: ENSP00000429479.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.239A>G
  hgvsp: ENSP00000408476.1:p.His80Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.419A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His422Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-22424652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424652
    reference: chr 8
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.243C>T
  hgvsp: ENST00000428103.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.102C>T
  hgvsp: ENST00000523348.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.243C>T
  hgvsp: ENST00000523965.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.659C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2000C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.283C>T
  hgvsp: ENST00000521554.1:c.283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.423C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.243C>T
  hgvsp: ENST00000518912.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.33G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.243C>T
  hgvsp: ENST00000523900.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1269C>T
  hgvsp: ENST00000240123.7:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.243C>T
  hgvsp: ENST00000522721.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His423His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

8-22424653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424653
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424653
    reference: chr 8
allele count: 6
allele frequency: 4.991680532445923e-5
allele num: 120200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.32C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.284G>A
  hgvsp: ENSP00000429058.1:p.Gly96Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.244G>A
  hgvsp: ENSP00000429764.1:p.Gly82Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.244G>A
  hgvsp: ENSP00000431128.1:p.Gly82Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.244G>A
  hgvsp: ENSP00000408476.1:p.Gly82Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.424G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1270G>A
  hgvsp: ENSP00000240123.7:p.Gly424Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.244G>A
  hgvsp: ENSP00000429887.1:p.Gly82Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2001G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.244G>A
  hgvsp: ENSP00000429479.1:p.Gly82Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.103G>A
  hgvsp: ENSP00000428678.1:p.Gly35Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.660G>A
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly424Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

8-22424653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424653
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424653
    reference: chr 8
allele count: 1
allele frequency: 8.319467554076538e-6
allele num: 120200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.103G>C
  hgvsp: ENSP00000428678.1:p.Gly35Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.244G>C
  hgvsp: ENSP00000429887.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.244G>C
  hgvsp: ENSP00000431128.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.32C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1270G>C
  hgvsp: ENSP00000240123.7:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.244G>C
  hgvsp: ENSP00000429479.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.244G>C
  hgvsp: ENSP00000429764.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.244G>C
  hgvsp: ENSP00000408476.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.284G>C
  hgvsp: ENSP00000429058.1:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.424G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.660G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2001G>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly424Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

8-22424656-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424656
    reference: chr 8
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2004C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.247C>G
  hgvsp: ENSP00000429764.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.427C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.247C>G
  hgvsp: ENSP00000408476.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.29G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.106C>G
  hgvsp: ENSP00000428678.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1273C>G
  hgvsp: ENSP00000240123.7:p.Arg425Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.247C>G
  hgvsp: ENSP00000431128.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.663C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.247C>G
  hgvsp: ENSP00000429887.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.247C>G
  hgvsp: ENSP00000429479.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.287C>G
  hgvsp: ENSP00000429058.1:p.Arg97Gly
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg425Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-22424656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424656
    reference: chr 8
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.247C>T
  hgvsp: ENSP00000408476.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.29G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.247C>T
  hgvsp: ENSP00000429764.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.247C>T
  hgvsp: ENSP00000431128.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2004C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.247C>T
  hgvsp: ENSP00000429887.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.247C>T
  hgvsp: ENSP00000429479.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1273C>T
  hgvsp: ENSP00000240123.7:p.Arg425Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.106C>T
  hgvsp: ENSP00000428678.1:p.Arg36Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.427C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.663C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.287C>T
  hgvsp: ENSP00000429058.1:p.Arg97Cys
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg425Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-22424657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424657
    reference: chr 8
allele count: 10
allele frequency: 8.326117364950377e-5
allele num: 120104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.107G>A
  hgvsp: ENSP00000428678.1:p.Arg36His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1274G>A
  hgvsp: ENSP00000240123.7:p.Arg425His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.288G>A
  hgvsp: ENSP00000429058.1:p.Arg97His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.664G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.28C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.248G>A
  hgvsp: ENSP00000408476.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.248G>A
  hgvsp: ENSP00000431128.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.248G>A
  hgvsp: ENSP00000429887.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.248G>A
  hgvsp: ENSP00000429764.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2005G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.428G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.248G>A
  hgvsp: ENSP00000429479.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg425His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-22424665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424665
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424665
    reference: chr 8
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.115A>G
  hgvsp: ENSP00000428678.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.296A>G
  hgvsp: ENSP00000429058.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.436A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.256A>G
  hgvsp: ENSP00000431128.1:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2013A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1282A>G
  hgvsp: ENSP00000240123.7:p.Ile428Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.256A>G
  hgvsp: ENSP00000429887.1:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.256A>G
  hgvsp: ENSP00000429479.1:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.256A>G
  hgvsp: ENSP00000408476.1:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.672A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.256A>G
  hgvsp: ENSP00000429764.1:p.Ile86Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.20T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile428Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-22424682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424682
    reference: chr 8
allele count: 76
allele frequency: 6.399784428313994e-4
allele num: 118754
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254230
  ensembl transcript: ENST00000517384
  gene symbol: RP11-582J16.3
  hgvsc: ENST00000517384.1:n.3A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.273T>C
  hgvsp: ENST00000522721.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2030T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.273T>C
  hgvsp: ENST00000523965.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.453T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.132T>C
  hgvsp: ENST00000523348.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1299T>C
  hgvsp: ENST00000240123.7:c.1299T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.689T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.273T>C
  hgvsp: ENST00000518912.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.273T>C
  hgvsp: ENST00000523900.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.273T>C
  hgvsp: ENST00000428103.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.313T>C
  hgvsp: ENST00000521554.1:c.313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Tyr433Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

8-22424688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424688
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424688
    reference: chr 8
allele count: 3
allele frequency: 2.533698185872099e-5
allele num: 118404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279G>A
  hgvsp: ENST00000428103.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138G>A
  hgvsp: ENST00000523348.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279G>A
  hgvsp: ENST00000523965.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279G>A
  hgvsp: ENST00000518912.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305G>A
  hgvsp: ENST00000240123.7:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279G>A
  hgvsp: ENST00000523900.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319G>A
  hgvsp: ENST00000521554.1:c.319G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429479
  ensembl transcript: ENST00000522721
  gene symbol: SORBS3
  hgvsc: ENST00000522721.1:c.279G>A
  hgvsp: ENST00000522721.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1305G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

8-22424695-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424695
    reference: chr 8
allele count: 4
allele frequency: 3.395470442429799e-5
allele num: 117804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+7A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+7A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16298
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1305+7A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-22424697-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424696
    reference: chr 8
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+10delA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+10delA
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: GA
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

8-22424703-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424703
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424703
    reference: chr 8
allele count: 1
allele frequency: 8.524422470377632e-6
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+15C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+15C>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-22424705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424705
    reference: chr 8
allele count: 1
allele frequency: 8.52980313214371e-6
allele num: 117236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+17A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+17A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/8-22424709-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424710
    reference: chr 8
allele count: 13
allele frequency: 1.113223381116306e-4
allele num: 116778
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+23dupA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+23dupA
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24839
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-22424733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22424733
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22424733
    reference: chr 8
allele count: 2
allele frequency: 1.771102688533881e-5
allele num: 112924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2036+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.279+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.695+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.279+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.279+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.279+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1305+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.138+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.459+45G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.319+45G>A
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-22426612-CTATGTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426605
    reference: chr 8
allele count: 1
allele frequency: 8.526312199447495e-6
allele num: 117284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-48_460-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-48_2037-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-48_696-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-48_280-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-48_1306-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-48_280-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-48_280-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-48_139-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-48_320-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-48_280-42delTATGTTG
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 20340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CTATGTTG
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-22426629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426629
    reference: chr 8
allele count: 1
allele frequency: 8.501088139281828e-6
allele num: 117632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-32C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-32C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

8-22426630-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426630
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426630
    reference: chr 8
allele count: 1
allele frequency: 8.489540885628905e-6
allele num: 117792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-31C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-31C>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-22426632-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426632
    reference: chr 8
allele count: 1
allele frequency: 8.491126772522713e-6
allele num: 117770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-29A>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-29A>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-22426642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426642
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426642
    reference: chr 8
allele count: 1
allele frequency: 8.749978125054688e-6
allele num: 114286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-19A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-19A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20534
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-22426643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426643
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426643
    reference: chr 8
allele count: 9
allele frequency: 7.870572802798427e-5
allele num: 114350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-18T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-18T>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20530
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10972
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-22426650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426650
    reference: chr 8
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-11T>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-11T>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

8-22426650-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426649
    reference: chr 8
allele count: 22238
allele frequency: 1.851007158315299e-1
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-10delC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-10delC
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 1058
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 964
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 1387
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.25e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 756
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 8.75e1
  variant carriers: 1417
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 1242
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 2.75e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 9.75e1
  variant carriers: 6691
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 1427
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.25e1
  variant carriers: 1305
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 365
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28258
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 20
num of homozygotes: 2304
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: TC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

8-22426658-C-CAGTCTACATCCACAAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426675
    reference: chr 8
allele count: 12
allele frequency: 9.953219866626854e-5
allele num: 120564
alternate allele: CAGTCTACATCCACAAGG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsp: ENSP00000429058.1:p.Val108SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsp: ENSP00000240123.7:p.Val436SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsp: ENSP00000408476.1:p.Val94SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsp: ENSP00000428678.1:p.Val47SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsp: ENSP00000431128.1:p.Val94SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsp: ENSP00000429764.1:p.Val94SerfsTer54
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsp: ENSP00000429887.1:p.Val94SerfsTer?
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1306-1_1306insTCTACATCCACAAGGAG
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: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-22426658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426658
    reference: chr 8
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-3C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-3C>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1306-3C>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-22426659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426659
    reference: chr 8
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280-2A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280-2A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1306-2A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

8-22426661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426661
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426661
    reference: chr 8
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1306G>C
  hgvsp: ENSP00000240123.7:p.Val436Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.320G>C
  hgvsp: ENSP00000429058.1:p.Val108Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.280G>C
  hgvsp: ENSP00000429887.1:p.Val94Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.696G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.280G>C
  hgvsp: ENSP00000431128.1:p.Val94Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.280G>C
  hgvsp: ENSP00000408476.1:p.Val94Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.139G>C
  hgvsp: ENSP00000428678.1:p.Val47Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.280G>C
  hgvsp: ENSP00000429764.1:p.Val94Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2037G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.460G>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val436Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-22426663-G-GGACAAGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426671
    reference: chr 8
allele count: 12
allele frequency: 9.936406995230525e-5
allele num: 120768
alternate allele: GGACAAGAA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.141_142insGACAAGAA
  hgvsp: ENSP00000428678.1:p.Leu48AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.282_283insGACAAGAA
  hgvsp: ENSP00000431128.1:p.Leu95AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.282_283insGACAAGAA
  hgvsp: ENSP00000429887.1:p.Leu95AspfsTer?
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.698_699insGACAAGAA
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsp: ENSP00000240123.7:p.Leu437AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.282_283insGACAAGAA
  hgvsp: ENSP00000408476.1:p.Leu95AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.282_283insGACAAGAA
  hgvsp: ENSP00000429764.1:p.Leu95AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.322_323insGACAAGAA
  hgvsp: ENSP00000429058.1:p.Leu109AspfsTer50
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.462_463insGACAAGAA
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu437AspfsTer50
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-22426669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426669
    reference: chr 8
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1314C>T
  hgvsp: ENST00000240123.7:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.704C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.468C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.288C>T
  hgvsp: ENST00000523900.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2045C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.288C>T
  hgvsp: ENST00000523965.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.328C>T
  hgvsp: ENST00000521554.1:c.328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.288C>T
  hgvsp: ENST00000518912.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.147C>T
  hgvsp: ENST00000523348.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.288C>T
  hgvsp: ENST00000428103.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro438Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

8-22426670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426670
    reference: chr 8
allele count: 10
allele frequency: 8.268426187759422e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.289G>A
  hgvsp: ENSP00000429887.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.469G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.705G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.289G>A
  hgvsp: ENSP00000429764.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.329G>A
  hgvsp: ENSP00000429058.1:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.148G>A
  hgvsp: ENSP00000428678.1:p.Ala50Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.289G>A
  hgvsp: ENSP00000408476.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.289G>A
  hgvsp: ENSP00000431128.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1315G>A
  hgvsp: ENSP00000240123.7:p.Ala439Thr
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2046G>A
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala439Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-22426670-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426670
    reference: chr 8
allele count: 27
allele frequency: 2.232475070695044e-4
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.329G>T
  hgvsp: ENSP00000429058.1:p.Ala111Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.469G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.289G>T
  hgvsp: ENSP00000429764.1:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.289G>T
  hgvsp: ENSP00000431128.1:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2046G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.289G>T
  hgvsp: ENSP00000429887.1:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.289G>T
  hgvsp: ENSP00000408476.1:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1315G>T
  hgvsp: ENSP00000240123.7:p.Ala439Ser
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.705G>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.148G>T
  hgvsp: ENSP00000428678.1:p.Ala50Ser
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31181
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala439Ser
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-22426673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426673
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426673
    reference: chr 8
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.292G>C
  hgvsp: ENSP00000431128.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.151G>C
  hgvsp: ENSP00000428678.1:p.Asp51His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2049G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.292G>C
  hgvsp: ENSP00000429764.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1318G>C
  hgvsp: ENSP00000240123.7:p.Asp440His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.292G>C
  hgvsp: ENSP00000429887.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.472G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.332G>C
  hgvsp: ENSP00000429058.1:p.Asp112His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.292G>C
  hgvsp: ENSP00000408476.1:p.Asp98His
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.708G>C
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp440His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-22426674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426674
    reference: chr 8
allele count: 7
allele frequency: 5.784454691192755e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.293A>G
  hgvsp: ENSP00000429764.1:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.473A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.293A>G
  hgvsp: ENSP00000408476.1:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.293A>G
  hgvsp: ENSP00000431128.1:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.293A>G
  hgvsp: ENSP00000429887.1:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.333A>G
  hgvsp: ENSP00000429058.1:p.Asp112Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1319A>G
  hgvsp: ENSP00000240123.7:p.Asp440Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2050A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.709A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.152A>G
  hgvsp: ENSP00000428678.1:p.Asp51Gly
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp440Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS

8-22426683-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426683
    reference: chr 8
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.302C>G
  hgvsp: ENSP00000429887.1:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.161C>G
  hgvsp: ENSP00000428678.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.718C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2059C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.342C>G
  hgvsp: ENSP00000429058.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.302C>G
  hgvsp: ENSP00000431128.1:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1328C>G
  hgvsp: ENSP00000240123.7:p.Pro443Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.302C>G
  hgvsp: ENSP00000429764.1:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.302C>G
  hgvsp: ENSP00000408476.1:p.Pro101Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.482C>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro443Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-22426684-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426684
    reference: chr 8
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.303T>G
  hgvsp: ENST00000518912.1:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.303T>G
  hgvsp: ENST00000523900.1:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2060T>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.303T>G
  hgvsp: ENST00000523965.1:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.343T>G
  hgvsp: ENST00000521554.1:c.343T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.483T>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.719T>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.162T>G
  hgvsp: ENST00000523348.1:c.162T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1329T>G
  hgvsp: ENST00000240123.7:c.1329T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.303T>G
  hgvsp: ENST00000428103.1:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro443Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-22426691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426691
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426691
    reference: chr 8
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.350A>G
  hgvsp: ENSP00000429058.1:p.Ile118Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.310A>G
  hgvsp: ENSP00000431128.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2067A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1336A>G
  hgvsp: ENSP00000240123.7:p.Ile446Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.310A>G
  hgvsp: ENSP00000429887.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.310A>G
  hgvsp: ENSP00000408476.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.310A>G
  hgvsp: ENSP00000429764.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.490A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.726A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.169A>G
  hgvsp: ENSP00000428678.1:p.Ile57Val
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile446Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

8-22426696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426696
    reference: chr 8
allele count: 23
allele frequency: 1.899194081120359e-4
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.315G>A
  hgvsp: ENST00000518912.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.495G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.315G>A
  hgvsp: ENST00000523900.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.315G>A
  hgvsp: ENST00000523965.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.355G>A
  hgvsp: ENST00000521554.1:c.355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.731G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2072G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1341G>A
  hgvsp: ENST00000240123.7:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.315G>A
  hgvsp: ENST00000428103.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.174G>A
  hgvsp: ENST00000523348.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43390
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys447Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

8-22426698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426698
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426698
    reference: chr 8
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.357C>T
  hgvsp: ENSP00000429058.1:p.Pro120Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.317C>T
  hgvsp: ENSP00000408476.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.317C>T
  hgvsp: ENSP00000429887.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.176C>T
  hgvsp: ENSP00000428678.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.317C>T
  hgvsp: ENSP00000431128.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1343C>T
  hgvsp: ENSP00000240123.7:p.Pro448Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.497C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2074C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.317C>T
  hgvsp: ENSP00000429764.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.733C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro448Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

8-22426700-CCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426698
    reference: chr 8
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.320_321delCG
  hgvsp: ENSP00000429887.1:p.Pro107HisfsTer?
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.736_737delCG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.179_180delCG
  hgvsp: ENSP00000428678.1:p.Pro60HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.320_321delCG
  hgvsp: ENSP00000431128.1:p.Pro107HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.320_321delCG
  hgvsp: ENSP00000408476.1:p.Pro107HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2077_2078delCG
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.320_321delCG
  hgvsp: ENSP00000429764.1:p.Pro107HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.360_361delCG
  hgvsp: ENSP00000429058.1:p.Pro121HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1346_1347delCG
  hgvsp: ENSP00000240123.7:p.Pro449HisfsTer66
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.500_501delCG
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro449HisfsTer66
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: CCG
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

8-22426701-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426701
    reference: chr 8
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2077C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.500C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.320C>G
  hgvsp: ENSP00000408476.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1346C>G
  hgvsp: ENSP00000240123.7:p.Pro449Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.320C>G
  hgvsp: ENSP00000429764.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.179C>G
  hgvsp: ENSP00000428678.1:p.Pro60Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.320C>G
  hgvsp: ENSP00000431128.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.320C>G
  hgvsp: ENSP00000429887.1:p.Pro107Arg
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.736C>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.360C>G
  hgvsp: ENSP00000429058.1:p.Pro121Arg
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro449Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-22426701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426701
    reference: chr 8
allele count: 154
allele frequency: 1.271844339466816e-3
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1346C>T
  hgvsp: ENSP00000240123.7:p.Pro449Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2077C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.320C>T
  hgvsp: ENSP00000429764.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.360C>T
  hgvsp: ENSP00000429058.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.320C>T
  hgvsp: ENSP00000429887.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.179C>T
  hgvsp: ENSP00000428678.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.736C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.320C>T
  hgvsp: ENSP00000408476.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.320C>T
  hgvsp: ENSP00000431128.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.500C>T
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro449Leu
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

8-22426702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426702
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426702
    reference: chr 8
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.321G>A
  hgvsp: ENST00000523965.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.361G>A
  hgvsp: ENST00000521554.1:c.361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.501G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.321G>A
  hgvsp: ENST00000523900.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1347G>A
  hgvsp: ENST00000240123.7:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.321G>A
  hgvsp: ENST00000428103.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2078G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.737G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.180G>A
  hgvsp: ENST00000523348.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.321G>A
  hgvsp: ENST00000518912.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro449Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-22426703-ACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426703
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426701
    reference: chr 8
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.363_364delCC
  hgvsp: ENSP00000429058.1:p.Thr122IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.182_183delCC
  hgvsp: ENSP00000428678.1:p.Thr61IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2080_2081delCC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.323_324delCC
  hgvsp: ENSP00000429764.1:p.Thr108IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.323_324delCC
  hgvsp: ENSP00000408476.1:p.Thr108IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.323_324delCC
  hgvsp: ENSP00000429887.1:p.Thr108IlefsTer?
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.739_740delCC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1349_1350delCC
  hgvsp: ENSP00000240123.7:p.Thr450IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.503_504delCC
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.323_324delCC
  hgvsp: ENSP00000431128.1:p.Thr108IlefsTer65
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr450IlefsTer65
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: ACC
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-22426704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426704
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426704
    reference: chr 8
allele count: 39
allele frequency: 3.221170523811884e-4
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.503C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.323C>A
  hgvsp: ENSP00000431128.1:p.Thr108Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1349C>A
  hgvsp: ENSP00000240123.7:p.Thr450Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.323C>A
  hgvsp: ENSP00000429887.1:p.Thr108Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.363C>A
  hgvsp: ENSP00000429058.1:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.182C>A
  hgvsp: ENSP00000428678.1:p.Thr61Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2080C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.323C>A
  hgvsp: ENSP00000429764.1:p.Thr108Asn
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.739C>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.323C>A
  hgvsp: ENSP00000408476.1:p.Thr108Asn
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr450Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-22426705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426705
    reference: chr 8
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1350C>T
  hgvsp: ENST00000240123.7:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.740C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.504C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.324C>T
  hgvsp: ENST00000523900.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.324C>T
  hgvsp: ENST00000523965.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.364C>T
  hgvsp: ENST00000521554.1:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.324C>T
  hgvsp: ENST00000518912.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.183C>T
  hgvsp: ENST00000523348.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2081C>T
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.324C>T
  hgvsp: ENST00000428103.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31430
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr450Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-22426717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426717
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426717
    reference: chr 8
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.376G>A
  hgvsp: ENST00000521554.1:c.376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.516G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.336G>A
  hgvsp: ENST00000523965.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.752G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.195G>A
  hgvsp: ENST00000523348.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.336G>A
  hgvsp: ENST00000428103.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.336G>A
  hgvsp: ENST00000518912.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2093G>A
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1362G>A
  hgvsp: ENST00000240123.7:c.1362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.336G>A
  hgvsp: ENST00000523900.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu454Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

8-22426719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426719
    reference: chr 8
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.338A>G
  hgvsp: ENSP00000429887.1:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.338A>G
  hgvsp: ENSP00000431128.1:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.197A>G
  hgvsp: ENSP00000428678.1:p.Glu66Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1364A>G
  hgvsp: ENSP00000240123.7:p.Glu455Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.754A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2095A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.338A>G
  hgvsp: ENSP00000408476.1:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.518A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.338A>G
  hgvsp: ENSP00000429764.1:p.Glu113Gly
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.378A>G
  hgvsp: ENSP00000429058.1:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu455Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-22426722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426722
    reference: chr 8
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.341A>G
  hgvsp: ENSP00000429887.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.341A>G
  hgvsp: ENSP00000408476.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.341A>G
  hgvsp: ENSP00000429764.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1367A>G
  hgvsp: ENSP00000240123.7:p.Tyr456Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.381A>G
  hgvsp: ENSP00000429058.1:p.Tyr128Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2098A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.200A>G
  hgvsp: ENSP00000428678.1:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.341A>G
  hgvsp: ENSP00000431128.1:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.757A>G
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.521A>G
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr456Cys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

8-22426727-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22426727
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22426727
    reference: chr 8
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429058
  ensembl transcript: ENST00000521554
  gene symbol: SORBS3
  hgvsc: ENST00000521554.1:c.386G>C
  hgvsp: ENSP00000429058.1:p.Glu130Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000431128
  ensembl transcript: ENST00000523900
  gene symbol: SORBS3
  hgvsc: ENST00000523900.1:c.346G>C
  hgvsp: ENSP00000431128.1:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429887
  ensembl transcript: ENST00000518912
  gene symbol: SORBS3
  hgvsc: ENST00000518912.1:c.346G>C
  hgvsp: ENSP00000429887.1:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000408476
  ensembl transcript: ENST00000428103
  gene symbol: SORBS3
  hgvsc: ENST00000428103.1:c.346G>C
  hgvsp: ENSP00000408476.1:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000429764
  ensembl transcript: ENST00000523965
  gene symbol: SORBS3
  hgvsc: ENST00000523965.1:c.346G>C
  hgvsp: ENSP00000429764.1:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000428678
  ensembl transcript: ENST00000523348
  gene symbol: SORBS3
  hgvsc: ENST00000523348.1:c.205G>C
  hgvsp: ENSP00000428678.1:p.Glu69Gln
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000517535
  gene symbol: SORBS3
  hgvsc: ENST00000517535.1:n.2103G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000523740
  gene symbol: SORBS3
  hgvsc: ENST00000523740.1:n.762G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120896
  ensembl transcript: ENST00000519453
  gene symbol: SORBS3
  hgvsc: ENST00000519453.1:n.526G>C
  variant of: http://identifiers.org/hgnc/30907
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120896
  ensembl protein: ENSP00000240123
  ensembl transcript: ENST00000240123
  gene symbol: SORBS3
  hgvsc: ENST00000240123.7:c.1372G>C
  hgvsp: ENSP00000240123.7:p.Glu458Gln
  variant of: http://identifiers.org/hgnc/30907
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu458Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

9-135763806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135763806
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 135763806
    reference: chr 9
allele count: 102
allele frequency: 8.530139827390112e-4
allele num: 119576
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000298546
  ensembl transcript: ENST00000350499
  gene symbol: C9orf9
  hgvsc: ENST00000350499.6:c.477G>A
  hgvsp: ENST00000350499.6:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000361209
  ensembl transcript: ENST00000372136
  gene symbol: C9orf9
  hgvsc: ENST00000372136.3:c.477G>A
  hgvsp: ENST00000372136.3:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000348659
  ensembl transcript: ENST00000356311
  gene symbol: C9orf9
  hgvsc: ENST00000356311.5:c.477G>A
  hgvsp: ENST00000356311.5:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1367
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23109
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 9.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro159Pro
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-135763807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135763807
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 135763807
    reference: chr 9
allele count: 6
allele frequency: 5.018316856526321e-5
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000348659
  ensembl transcript: ENST00000356311
  gene symbol: C9orf9
  hgvsc: ENST00000356311.5:c.478C>T
  hgvsp: ENSP00000348659.5:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000298546
  ensembl transcript: ENST00000350499
  gene symbol: C9orf9
  hgvsc: ENST00000350499.6:c.478C>T
  hgvsp: ENSP00000298546.7:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000361209
  ensembl transcript: ENST00000372136
  gene symbol: C9orf9
  hgvsc: ENST00000372136.3:c.478C>T
  hgvsp: ENSP00000361209.3:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/1367
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5196
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg160Cys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

9-135763808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 135763808
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 135763808
    reference: chr 9
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000361209
  ensembl transcript: ENST00000372136
  gene symbol: C9orf9
  hgvsc: ENST00000372136.3:c.479G>A
  hgvsp: ENSP00000361209.3:p.Arg160His
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000298546
  ensembl transcript: ENST00000350499
  gene symbol: C9orf9
  hgvsc: ENST00000350499.6:c.479G>A
  hgvsp: ENSP00000298546.7:p.Arg160His
  variant of: http://identifiers.org/hgnc/1367
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000165698
  ensembl protein: ENSP00000348659
  ensembl transcript: ENST00000356311
  gene symbol: C9orf9
  hgvsc: ENST00000356311.5:c.479G>A
  hgvsp: ENSP00000348659.5:p.Arg160His
  variant of: http://identifiers.org/hgnc/1367
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg160His
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: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.591957811470006e-5
allele num: 15170
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.177e0

DP
type: SiteQuality
SIO_000300: 1.537276e6

VQSLOD
type: SiteQuality
SIO_000300: -2.854e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeDepth
all individuals: 711
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 12

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.676164934629568e-4
allele num: 65626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 3.598e0

QD
type: SiteQuality
SIO_000300: 1.443e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.540885e6

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.449116471043467e-5
allele num: 15506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.049e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.549315e6

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeDepth
all individuals: 2322
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2787
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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: 15674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.554222e6

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.889e1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.959e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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allele frequency: 2.540327702273593e-4
allele num: 15746
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.19041723412158e-5
allele num: 16154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -7.72e-1

FS
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SIO_000300: 3.356e0

MQ
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DP
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MQRankSum
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SIO_000300: 2.05e-1

BaseQRankSum
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SIO_000300: 2.68e-1

VQSLOD
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SIO_000300: -2.862e-1

QD
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SIO_000300: 2.118e1

ReadPosRankSum
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SIO_000300: 3.94e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.056508089833374e-4
allele num: 66256
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -2.02e-1

BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
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QD
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SIO_000300: 1.086e1

DP
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SIO_000300: 1.574081e6

GenotypeDepth
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variant carriers: 41

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

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 count: 4
allele frequency: 6.037735849056604e-5
allele num: 66250
num of homozygotes: 0

Latino
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allele frequency: 1.730403183941858e-3
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African
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allele count: 575
allele frequency: 5.548050945580857e-2
allele num: 10364
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

European (Finnish)
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European (Non-Finnish)
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allele num: 66288
num of homozygotes: 0

Latino
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East Asian
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African
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Other
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.542838971501257e-5
allele num: 66038
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.13e-1

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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FS
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QD
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InbreedingCoeff
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SIO_000300: 2.0e-4

MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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

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

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

South Asian
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Other
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allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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DP
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QD
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SIO_000300: 1.374e1

BaseQRankSum
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SIO_000300: 2.06e0

ClippingRankSum
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SIO_000300: 1.51e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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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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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: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 4.11e-1

BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.568821e6

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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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 num: 900
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.060349006301503e-4
allele num: 66016
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African
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East Asian
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allele num: 8622
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European (Finnish)
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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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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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

East Asian
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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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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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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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 65490
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African
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Latino
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Other
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ClippingRankSum
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QD
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DP
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MQ
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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European (Finnish)
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African
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European (Non-Finnish)
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allele num: 65354
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Other
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South Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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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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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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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.652244708071644e-4
allele num: 8598
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FS
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.537941004583064e-5
allele num: 65022
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.542305438168975e-5
allele num: 64838
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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FS
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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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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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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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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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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East Asian
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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FS
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ClippingRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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: 8.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10985
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
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: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.015574575557738e-5
allele num: 14254
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 2.028765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.877e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 4.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

GenotypeQuality
all individuals: 7226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 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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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527977263698316e-5
allele num: 65446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14358
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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.798e0

MQ
type: SiteQuality
SIO_000300: 6.019e1

VQSLOD
type: SiteQuality
SIO_000300: -3.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.385e0

DP
type: SiteQuality
SIO_000300: 2.030438e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 2.707e1

GenotypeQuality
all individuals: 1212
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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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: 10976
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variant carriers: 1

GenotypeQuality
all individuals: 1971
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
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: 65418
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.5445e1

DP
type: SiteQuality
SIO_000300: 2.042153e6

QD
type: SiteQuality
SIO_000300: 1.116e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.453e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10972
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.979341150195422e-5
allele num: 14328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 6.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.105902e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

GenotypeQuality
all individuals: 1531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 1945
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
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GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
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GenotypeQuality
all individuals: 300
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GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 162
bin: 1.75e1
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GenotypeQuality
all individuals: 464
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28571
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variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.779004454774356e-4
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62496
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.815232722143864e-5
allele num: 11344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.144e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 2.108039e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
all individuals: 28258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20360
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variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 3.25e1
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 557
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GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 677
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 1640
bin: 7.25e1
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GenotypeQuality
all individuals: 1576
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.370238246910434e-5
allele num: 15698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.784e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.71e0

DP
type: SiteQuality
SIO_000300: 2.758295e6

MQ
type: SiteQuality
SIO_000300: 6.012e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 7.5e0
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GenotypeQuality
all individuals: 1640
bin: 7.25e1
variant carriers: 27

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 29
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GenotypeQuality
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bin: 7.75e1
variant carriers: 39

GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 677
bin: 8.25e1
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GenotypeQuality
all individuals: 249
bin: 9.25e1
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GenotypeQuality
all individuals: 20360
bin: 9.75e1
variant carriers: 19692

GenotypeQuality
all individuals: 6439
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 234
bin: 8.75e1
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GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 103
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variant carriers: 4

GenotypeQuality
all individuals: 51
bin: 4.25e1
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GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 19

East Asian
type: Population
allele count: 604
allele frequency: 6.99074074074074e-2
allele num: 8640
num of homozygotes: 23

Latino
type: Population
allele count: 1567
allele frequency: 1.354598893499308e-1
allele num: 11568
num of homozygotes: 112

African
type: Population
allele count: 563
allele frequency: 5.42493736750819e-2
allele num: 10378
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 15124
allele frequency: 2.279289869487898e-1
allele num: 66354
num of homozygotes: 1706

South Asian
type: Population
allele count: 3066
allele frequency: 1.953115046502739e-1
allele num: 15698
num of homozygotes: 309

European (Finnish)
type: Population
allele count: 1149
allele frequency: 1.738275340393343e-1
allele num: 6610
num of homozygotes: 115

Other
type: Population
allele count: 165
allele frequency: 1.849775784753363e-1
allele num: 892
num of homozygotes: 23

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.71e0

DP
type: SiteQuality
SIO_000300: 2.758295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.784e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQ
type: SiteQuality
SIO_000300: 6.012e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
all individuals: 416
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GenotypeQuality
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GenotypeQuality
all individuals: 1025
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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: 63
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 112
bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 92
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GenotypeQuality
all individuals: 882
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 9.25e1
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: 15986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.805597351790551e-4
allele num: 66460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.459e0

VQSLOD
type: SiteQuality
SIO_000300: -5.167e-1

DP
type: SiteQuality
SIO_000300: 1.654141e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 4.846e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 882
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
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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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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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SIO_000300: 1.05e0

DP
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

East Asian
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QD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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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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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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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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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: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

MQ
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SIO_000300: 6.019e1

ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.803968731208659e-4
allele num: 66520
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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Other
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num of homozygotes: 0

South Asian
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DP
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SIO_000300: 1.656448e6

ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.283e1

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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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

African
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East Asian
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Other
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Latino
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allele num: 11574
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQRankSum
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FS
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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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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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Latino
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allele num: 11574
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Other
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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QD
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ReadPosRankSum
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MQRankSum
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DP
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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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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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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num of homozygotes: 0

European (Finnish)
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East Asian
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European (Non-Finnish)
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allele num: 66546
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South Asian
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Latino
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allele num: 11574
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Other
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allele num: 900
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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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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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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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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Other
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QD
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.939e0

DP
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SIO_000300: 1.659655e6

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.013610551933419e-5
allele num: 66566
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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QD
type: SiteQuality
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FS
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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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: 1

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
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allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.298e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.067e0

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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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: 1

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

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

South Asian
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.842e0

QD
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.553e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.623e0

DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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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: 23

African
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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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South Asian
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allele count: 23
allele frequency: 1.404151404151404e-3
allele num: 16380
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQ
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MQRankSum
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QD
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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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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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num of homozygotes: 0

Latino
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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DP
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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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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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 (Non-Finnish)
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allele num: 66586
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East Asian
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South Asian
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Other
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African
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Latino
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European (Finnish)
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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FS
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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African
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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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 1.663462e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

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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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: 153

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43395
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 151
allele frequency: 1.745664739884393e-2
allele num: 8650
num of homozygotes: 1

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

FS
type: SiteQuality
SIO_000300: 1.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.663462e6

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.001e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.654261e6

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.338e0

QD
type: SiteQuality
SIO_000300: 8.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.391e0

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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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43512
bin: 6.25e1
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GenotypeQuality
all individuals: 9794
bin: 6.75e1
variant carriers: 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: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.904e0

MQ
type: SiteQuality
SIO_000300: 4.933e1

DP
type: SiteQuality
SIO_000300: 1.654111e6

QD
type: SiteQuality
SIO_000300: 1.544e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

VQSLOD
type: SiteQuality
SIO_000300: -6.759999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 9790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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variant carriers: 39

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2339
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variant carriers: 0

GenotypeQuality
all individuals: 43508
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 31
allele frequency: 2.679343128781331e-3
allele num: 11570
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.663898387884709e-4
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.65529e6

FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 16
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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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43501
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GenotypeQuality
all individuals: 5
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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: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
SIO_000300: 1.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.652754e6

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 3.75e1
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: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
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
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VQSLOD
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SIO_000300: -2.109e0

QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.5512e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

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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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.446e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 1.392e0

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

DP
type: SiteQuality
SIO_000300: 1.649732e6

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

DP
type: SiteQuality
SIO_000300: 1.64688e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 91
allele frequency: 1.387914467864442e-3
allele num: 65566
num of homozygotes: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.62660158633313e-4
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 1.61e1

DP
type: SiteQuality
SIO_000300: 1.704001e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

FS
type: SiteQuality
SIO_000300: 2.658e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 35298
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525413387027885e-5
allele num: 65556
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.057729941291585e-4
allele num: 16352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.702357e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 1221
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1