http://identifiers.org/exac.variant/6-55924965-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924965
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924964
    reference: chr 6
allele count: 1
allele frequency: 9.047481181239142e-6
allele num: 110528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.809delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.1010delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2458delT
  hgvsp: ENSP00000244728.5:p.Cys820AlafsTer17
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2449delT
  hgvsp: ENSP00000359855.1:p.Cys817AlafsTer17
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-88delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-52delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2458delT
  hgvsp: ENSP00000444384.1:p.Cys820AlafsTer17
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-52delT
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys820AlafsTer17
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

6-55924972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924972
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924972
    reference: chr 6
allele count: 1
allele frequency: 9.269043249355801e-6
allele num: 107886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2452G>A
  hgvsp: ENSP00000444384.1:p.Asp818Asn
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2452G>A
  hgvsp: ENSP00000244728.5:p.Asp818Asn
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.1004G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2443G>A
  hgvsp: ENSP00000359855.1:p.Asp815Asn
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-94G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-58G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.803G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-58G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp818Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-55924986-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924986
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924986
    reference: chr 6
allele count: 2
allele frequency: 2.064665317751992e-5
allele num: 96868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-72G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2438G>T
  hgvsp: ENSP00000444384.1:p.Arg813Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.990G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.789G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2429G>T
  hgvsp: ENSP00000359855.1:p.Arg810Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-108G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-72G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2438G>T
  hgvsp: ENSP00000244728.5:p.Arg813Ile
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12500
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23456
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg813Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-55924992-CTCTGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924992
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924987
    reference: chr 6
allele count: 1
allele frequency: 1.084222395697805e-5
allele num: 92232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2427_2431delTCAGA
  hgvsp: ENSP00000444384.1:p.Gln810TrpfsTer4
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-83_*656-79delTCAGA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-119_268-115delTCAGA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-83_608-79delTCAGA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2427_2431delTCAGA
  hgvsp: ENSP00000244728.5:p.Gln810TrpfsTer4
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.778_782delTCAGA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2418_2422delTCAGA
  hgvsp: ENSP00000359855.1:p.Gln807TrpfsTer4
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.979_983delTCAGA
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln810TrpfsTer4
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CTCTGA
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-55924994-CTGAAGTAAGACTGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924994
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924980
    reference: chr 6
allele count: 1
allele frequency: 1.100158422812885e-5
allele num: 90896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsp: ENSP00000444384.1:p.Pro806GlufsTer5
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsp: ENSP00000359855.1:p.Pro803GlufsTer5
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsp: ENSP00000244728.5:p.Pro806GlufsTer5
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro806GlufsTer5
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: CTGAAGTAAGACTGG
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-55924995-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55924995
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55924995
    reference: chr 6
allele count: 1
allele frequency: 1.107223526285487e-5
allele num: 90316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2420A>T
  hgvsp: ENSP00000359855.1:p.Gln807Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-81A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.981A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-117A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2429A>T
  hgvsp: ENSP00000244728.5:p.Gln810Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.780A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-81A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2429A>T
  hgvsp: ENSP00000444384.1:p.Gln810Leu
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13999
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln810Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

6-55925000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925000
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925000
    reference: chr 6
allele count: 1
allele frequency: 1.171179612105313e-5
allele num: 85384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-86A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2424A>G
  hgvsp: ENST00000535941.1:c.2424A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2415A>G
  hgvsp: ENST00000370819.1:c.2415A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.775A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-122A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2424A>G
  hgvsp: ENST00000244728.5:c.2424A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.976A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-86A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu808Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

6-55925004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925004
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925004
    reference: chr 6
allele count: 1
allele frequency: 1.210536509781135e-5
allele num: 82608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2411T>C
  hgvsp: ENSP00000359855.1:p.Val804Ala
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.771T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2420T>C
  hgvsp: ENSP00000244728.5:p.Val807Ala
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-90T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.972T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2420T>C
  hgvsp: ENSP00000444384.1:p.Val807Ala
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-90T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-126T>C
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val807Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

6-55925005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925005
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925005
    reference: chr 6
allele count: 1
allele frequency: 1.2453300124533e-5
allele num: 80300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2410G>A
  hgvsp: ENSP00000359855.1:p.Val804Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-127G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2419G>A
  hgvsp: ENSP00000244728.5:p.Val807Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-91G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2419G>A
  hgvsp: ENSP00000444384.1:p.Val807Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-91G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.971G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.770G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val807Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

6-55925008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925008
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925008
    reference: chr 6
allele count: 2
allele frequency: 2.547770700636943e-5
allele num: 78500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2416C>T
  hgvsp: ENSP00000444384.1:p.Pro806Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-94C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-94C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2407C>T
  hgvsp: ENSP00000359855.1:p.Pro803Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2416C>T
  hgvsp: ENSP00000244728.5:p.Pro806Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-130C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.968C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.767C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro806Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

6-55925012-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925012
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925012
    reference: chr 6
allele count: 22
allele frequency: 2.951277098089719e-4
allele num: 74544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2403G>C
  hgvsp: ENSP00000359855.1:p.Gln801His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2412G>C
  hgvsp: ENSP00000444384.1:p.Gln804His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-98G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.964G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-134G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-98G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2412G>C
  hgvsp: ENSP00000244728.5:p.Gln804His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.763G>C
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31980
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln804His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-55925016-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925016
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925016
    reference: chr 6
allele count: 3
allele frequency: 4.247607181287875e-5
allele num: 70628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.960C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408C>G
  hgvsp: ENSP00000444384.1:p.Ala803Gly
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-102C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399C>G
  hgvsp: ENSP00000359855.1:p.Ala800Gly
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-138C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-102C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408C>G
  hgvsp: ENSP00000244728.5:p.Ala803Gly
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala803Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-55925017-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925017
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925017
    reference: chr 6
allele count: 1
allele frequency: 1.451041848046898e-5
allele num: 68916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399-1G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759-1G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-139G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-103G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408-1G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-103G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.959G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408-1G>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2408-1G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

6-55925027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925027
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925027
    reference: chr 6
allele count: 5
allele frequency: 8.274857672448033e-5
allele num: 60424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408-11G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399-11G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759-11G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.949G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-113G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-113G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-149G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408-11G>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16879
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

6-55925042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925042
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925042
    reference: chr 6
allele count: 168
allele frequency: 3.367543296985247e-3
allele num: 49888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.934G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399-26G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408-26G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408-26G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-128G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-164G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-128G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759-26G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19822
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15820
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25645
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-55925060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925060
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925060
    reference: chr 6
allele count: 2
allele frequency: 6.155361319709468e-5
allele num: 32492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408-44T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-146T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-146T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399-44T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759-44T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.916T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-182T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408-44T>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

6-55925062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925062
    reference: chr 6
allele count: 1
allele frequency: 3.463563313937379e-5
allele num: 28872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.608-148A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.914A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2408-46A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.268-184A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*656-148A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.759-46A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2399-46A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2408-46A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

6-55925495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925495
    reference: chr 6
allele count: 22
allele frequency: 2.006200984862302e-4
allele num: 109660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.481A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+44A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+44A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17383
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

6-55925505-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925503
    reference: chr 6
allele count: 10
allele frequency: 9.082817126559974e-5
allele num: 110098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+32_607+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+32_2407+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+32_*655+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.469_470delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+32_758+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+32_2398+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+32_267+33delTT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+32_2407+33delTT
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GAA
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

6-55925512-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925512
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925511
    reference: chr 6
allele count: 1
allele frequency: 8.989895357618037e-6
allele num: 111236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.463delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+26delT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+26delT
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: TA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/6-55925513-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925513
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925513
    reference: chr 6
allele count: 2
allele frequency: 1.796880615251923e-5
allele num: 111304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.463T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+26T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+26T>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

6-55925522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925522
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925522
    reference: chr 6
allele count: 11
allele frequency: 9.72951936174353e-5
allele num: 113058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.454G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+17G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+17G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

6-55925525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925525
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925525
    reference: chr 6
allele count: 1
allele frequency: 8.778398117911443e-6
allele num: 113916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.451A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+14A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+14A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

6-55925527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925527
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925527
    reference: chr 6
allele count: 1
allele frequency: 8.742022904100009e-6
allele num: 114390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.449A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+12A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+12A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

6-55925530-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925530
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925530
    reference: chr 6
allele count: 1
allele frequency: 8.692628650904034e-6
allele num: 115040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.446C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.758+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*655+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.607+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2398+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2407+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.267+9C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2407+9C>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

6-55925542-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925542
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925542
    reference: chr 6
allele count: 2
allele frequency: 1.709226404129491e-5
allele num: 117012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*652A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.264A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2395A>T
  hgvsp: ENSP00000359855.1:p.Arg799Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.604A>T
  hgvsp: ENSP00000359844.2:p.Arg202Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2404A>T
  hgvsp: ENSP00000244728.5:p.Arg802Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.434A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2404A>T
  hgvsp: ENSP00000444384.1:p.Arg802Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.755A>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg802Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

6-55925548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925548
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925548
    reference: chr 6
allele count: 1
allele frequency: 8.501955449753444e-6
allele num: 117620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*646G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2398G>A
  hgvsp: ENSP00000244728.5:p.Val800Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.598G>A
  hgvsp: ENSP00000359844.2:p.Val200Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.258G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.749G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2389G>A
  hgvsp: ENSP00000359855.1:p.Val797Ile
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.428G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2398G>A
  hgvsp: ENSP00000444384.1:p.Val800Ile
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val800Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-55925551-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925551
    reference: chr 6
allele count: 1
allele frequency: 8.486947075398038e-6
allele num: 117828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.595G>C
  hgvsp: ENSP00000359844.2:p.Asp199His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2386G>C
  hgvsp: ENSP00000359855.1:p.Asp796His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.425G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.746G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2395G>C
  hgvsp: ENSP00000244728.5:p.Asp799His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*643G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.255G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2395G>C
  hgvsp: ENSP00000444384.1:p.Asp799His
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp799His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

6-55925563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925563
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925563
    reference: chr 6
allele count: 1
allele frequency: 8.441953130276222e-6
allele num: 118456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*631C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2383C>T
  hgvsp: ENSP00000244728.5:p.Gln795Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.243C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2383C>T
  hgvsp: ENSP00000444384.1:p.Gln795Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.583C>T
  hgvsp: ENSP00000359844.2:p.Gln195Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.734C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2374C>T
  hgvsp: ENSP00000359855.1:p.Gln792Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.413C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln795Ter
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

6-55925565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925565
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925565
    reference: chr 6
allele count: 23
allele frequency: 1.941255908170155e-4
allele num: 118480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.411G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2381G>A
  hgvsp: ENSP00000244728.5:p.Arg794Gln
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2381G>A
  hgvsp: ENSP00000444384.1:p.Arg794Gln
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.581G>A
  hgvsp: ENSP00000359844.2:p.Arg194Gln
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.241G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2372G>A
  hgvsp: ENSP00000359855.1:p.Arg791Gln
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.732G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*629G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg794Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

6-55925566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925566
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925566
    reference: chr 6
allele count: 4
allele frequency: 3.375242595561556e-5
allele num: 118510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2371C>T
  hgvsp: ENSP00000359855.1:p.Arg791Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.410C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*628C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.580C>T
  hgvsp: ENSP00000359844.2:p.Arg194Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2380C>T
  hgvsp: ENSP00000444384.1:p.Arg794Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.731C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2380C>T
  hgvsp: ENSP00000244728.5:p.Arg794Ter
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.240C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15857
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg794Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

6-55925575-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925575
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925575
    reference: chr 6
allele count: 1
allele frequency: 8.431845393682861e-6
allele num: 118598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2362C>A
  hgvsp: ENSP00000359855.1:p.Gln788Lys
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.722C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2371C>A
  hgvsp: ENSP00000244728.5:p.Gln791Lys
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*619C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.571C>A
  hgvsp: ENSP00000359844.2:p.Gln191Lys
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2371C>A
  hgvsp: ENSP00000444384.1:p.Gln791Lys
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.401C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.231C>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln791Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

6-55925585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925585
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925585
    reference: chr 6
allele count: 1
allele frequency: 8.436540343535924e-6
allele num: 118532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.561G>A
  hgvsp: ENST00000370808.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*609G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2352G>A
  hgvsp: ENST00000370819.1:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.221G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2361G>A
  hgvsp: ENST00000244728.5:c.2361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2361G>A
  hgvsp: ENST00000535941.1:c.2361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.712G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.391G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu787Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

6-55925586-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925586
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925586
    reference: chr 6
allele count: 10
allele frequency: 8.434974779425409e-5
allele num: 118554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.390A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.220A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.560A>T
  hgvsp: ENSP00000359844.2:p.Glu187Val
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2360A>T
  hgvsp: ENSP00000444384.1:p.Glu787Val
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2360A>T
  hgvsp: ENSP00000244728.5:p.Glu787Val
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2351A>T
  hgvsp: ENSP00000359855.1:p.Glu784Val
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.711A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*608A>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16083
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu787Val
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-55925588-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925588
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925588
    reference: chr 6
allele count: 23
allele frequency: 1.940698989148961e-4
allele num: 118514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2349A>C
  hgvsp: ENSP00000359855.1:p.Arg783Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2358A>C
  hgvsp: ENSP00000244728.5:p.Arg786Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.388A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.218A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*606A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.558A>C
  hgvsp: ENSP00000359844.2:p.Arg186Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2358A>C
  hgvsp: ENSP00000444384.1:p.Arg786Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.709A>C
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg786Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

6-55925591-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925591
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925591
    reference: chr 6
allele count: 1
allele frequency: 8.443093549476529e-6
allele num: 118440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*603A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2355A>T
  hgvsp: ENST00000535941.1:c.2355A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2346A>T
  hgvsp: ENST00000370819.1:c.2346A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.706A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.215A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.555A>T
  hgvsp: ENST00000370808.2:c.555A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.385A>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2355A>T
  hgvsp: ENST00000244728.5:c.2355A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2355A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-55925593-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925593
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925593
    reference: chr 6
allele count: 1
allele frequency: 8.446516656530846e-6
allele num: 118392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353G>C
  hgvsp: ENSP00000244728.5:p.Gly785Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.383G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704G>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553G>C
  hgvsp: ENSP00000359844.2:p.Gly185Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344G>C
  hgvsp: ENSP00000359855.1:p.Gly782Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353G>C
  hgvsp: ENSP00000444384.1:p.Gly785Arg
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly785Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

6-55925596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925596
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925596
    reference: chr 6
allele count: 1
allele frequency: 8.455372543714276e-6
allele num: 118268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.380C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-3C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-3C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2353-3C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/6-55925597-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925597
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925597
    reference: chr 6
allele count: 1
allele frequency: 8.454085859695991e-6
allele num: 118286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.379G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-4G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-4G>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2353-4G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-55925604-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925604
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925604
    reference: chr 6
allele count: 1
allele frequency: 8.472135147499873e-6
allele num: 118034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-11C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.372C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-11C>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

6-55925605-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925605
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925605
    reference: chr 6
allele count: 2
allele frequency: 1.69485780143046e-5
allele num: 118004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.371A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-12A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-12A>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

6-55925607-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925607
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925607
    reference: chr 6
allele count: 1
allele frequency: 8.479031355457952e-6
allele num: 117938
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.369A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-14A>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-14A>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

6-55925622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925622
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925622
    reference: chr 6
allele count: 24
allele frequency: 2.041198183333617e-4
allele num: 117578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.354A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-29A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-29A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30827
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

6-55925625-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925625
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925625
    reference: chr 6
allele count: 1
allele frequency: 8.518177791406862e-6
allele num: 117396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.351T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-32T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-32T>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

6-55925629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925629
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925629
    reference: chr 6
allele count: 1
allele frequency: 8.522969402539845e-6
allele num: 117330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.347T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-36T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-36T>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

6-55925635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925635
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925635
    reference: chr 6
allele count: 3
allele frequency: 2.561256723298899e-5
allele num: 117130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.341G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-42G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-42G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

6-55925638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925638
    reference: chr 6
allele count: 1
allele frequency: 8.540438978563499e-6
allele num: 117090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.338C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-45C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-45C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

6-55925639-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925639
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925639
    reference: chr 6
allele count: 1
allele frequency: 8.543357539513029e-6
allele num: 117050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2344-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.553-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2353-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*601-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.704-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.337T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2353-46T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.213-46T>A
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-55925641-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925641
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925642
    reference: chr 6
allele count: 1
allele frequency: 8.557394444539527e-6
allele num: 116858
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.334dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+47dupT
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+47dupT
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/6-55925646-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925646
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925646
    reference: chr 6
allele count: 5
allele frequency: 4.277818654711589e-5
allele num: 116882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.330T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+43T>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+43T>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-55925650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925650
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925650
    reference: chr 6
allele count: 3
allele frequency: 2.569637167231987e-5
allele num: 116748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+39T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.326T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+39T>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16135
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

6-55925651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925651
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925651
    reference: chr 6
allele count: 1
allele frequency: 8.561350638676758e-6
allele num: 116804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.325A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+38A>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+38A>G
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

6-55925656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925656
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925656
    reference: chr 6
allele count: 4
allele frequency: 3.42876735813475e-5
allele num: 116660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.320T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+33T>C
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+33T>C
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

6-55925676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925676
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925676
    reference: chr 6
allele count: 3
allele frequency: 2.581311306143521e-5
allele num: 116220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.300C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+13C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+13C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-55925684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925684
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925684
    reference: chr 6
allele count: 1
allele frequency: 8.609111884018045e-6
allele num: 116156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.292G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+5G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+5G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2352+5G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

6-55925685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925685
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925685
    reference: chr 6
allele count: 1
allele frequency: 8.597565169543985e-6
allele num: 116312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.291T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+4T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+4T>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2352+4T>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-55925688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925688
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925688
    reference: chr 6
allele count: 1
allele frequency: 8.612967684145249e-6
allele num: 116104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.288G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343+1G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600+1G>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2352+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-55925689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925689
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925689
    reference: chr 6
allele count: 5
allele frequency: 4.301001273096377e-5
allele num: 116252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2343C>T
  hgvsp: ENST00000370819.1:c.2343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2352C>T
  hgvsp: ENST00000535941.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2352C>T
  hgvsp: ENST00000244728.5:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.552C>T
  hgvsp: ENST00000370808.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.703C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*600C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.287C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.212C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2352C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-55925691-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925691
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925691
    reference: chr 6
allele count: 1
allele frequency: 8.597565169543985e-6
allele num: 116312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2350C>A
  hgvsp: ENSP00000444384.1:p.Pro784Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.550C>A
  hgvsp: ENSP00000359844.2:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*598C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2341C>A
  hgvsp: ENSP00000359855.1:p.Pro781Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2350C>A
  hgvsp: ENSP00000244728.5:p.Pro784Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.285C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.210C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.701C>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro784Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-55925706-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925706
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925705
    reference: chr 6
allele count: 1
allele frequency: 8.569861511037982e-6
allele num: 116688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.534delA
  hgvsp: ENSP00000359844.2:p.Gly179ValfsTer22
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.194delA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.269delA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2334delA
  hgvsp: ENSP00000444384.1:p.Gly779ValfsTer22
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*582delA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.685delA
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2325delA
  hgvsp: ENSP00000359855.1:p.Gly776ValfsTer22
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2334delA
  hgvsp: ENSP00000244728.5:p.Gly779ValfsTer22
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly779ValfsTer22
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-55925708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925708
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925708
    reference: chr 6
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2333C>T
  hgvsp: ENSP00000244728.5:p.Pro778Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.533C>T
  hgvsp: ENSP00000359844.2:p.Pro178Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.684C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.193C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2324C>T
  hgvsp: ENSP00000359855.1:p.Pro775Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2333C>T
  hgvsp: ENSP00000444384.1:p.Pro778Leu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*581C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.268C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro778Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

6-55925708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925708
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925708
    reference: chr 6
allele count: 1
allele frequency: 8.57030218885518e-6
allele num: 116682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*581C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.268C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2333C>G
  hgvsp: ENSP00000444384.1:p.Pro778Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.684C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.533C>G
  hgvsp: ENSP00000359844.2:p.Pro178Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2324C>G
  hgvsp: ENSP00000359855.1:p.Pro775Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2333C>G
  hgvsp: ENSP00000244728.5:p.Pro778Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.193C>G
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro778Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

6-55925711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925711
    reference: chr 6
allele count: 4
allele frequency: 3.425185388159134e-5
allele num: 116782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2321C>G
  hgvsp: ENSP00000359855.1:p.Pro774Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2330C>G
  hgvsp: ENSP00000244728.5:p.Pro777Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.530C>G
  hgvsp: ENSP00000359844.2:p.Pro177Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.681C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.190C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2330C>G
  hgvsp: ENSP00000444384.1:p.Pro777Arg
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.265C>G
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*578C>G
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro777Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-55925711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925711
    reference: chr 6
allele count: 1
allele frequency: 8.562963470397836e-6
allele num: 116782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.681C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.265C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2321C>A
  hgvsp: ENSP00000359855.1:p.Pro774His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2330C>A
  hgvsp: ENSP00000244728.5:p.Pro777His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2330C>A
  hgvsp: ENSP00000444384.1:p.Pro777His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.530C>A
  hgvsp: ENSP00000359844.2:p.Pro177His
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.190C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*578C>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27345
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro777His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

6-55925712-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925712
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925712
    reference: chr 6
allele count: 9
allele frequency: 7.709043564661745e-5
allele num: 116746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.189C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2329C>A
  hgvsp: ENSP00000444384.1:p.Pro777Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.529C>A
  hgvsp: ENSP00000359844.2:p.Pro177Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.680C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2320C>A
  hgvsp: ENSP00000359855.1:p.Pro774Thr
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*577C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.264C>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2329C>A
  hgvsp: ENSP00000244728.5:p.Pro777Thr
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27382
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro777Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

6-55925727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925727
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925727
    reference: chr 6
allele count: 7
allele frequency: 5.983008256551394e-5
allele num: 116998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2314C>T
  hgvsp: ENSP00000244728.5:p.Pro772Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.249C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.514C>T
  hgvsp: ENSP00000359844.2:p.Pro172Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2305C>T
  hgvsp: ENSP00000359855.1:p.Pro769Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.665C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2314C>T
  hgvsp: ENSP00000444384.1:p.Pro772Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.174C>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro772Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-55925728-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925728
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925728
    reference: chr 6
allele count: 1
allele frequency: 8.543941491088669e-6
allele num: 117042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2304T>A
  hgvsp: ENSP00000359855.1:p.Asp768Glu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.248T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2313T>A
  hgvsp: ENSP00000444384.1:p.Asp771Glu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.664T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2313T>A
  hgvsp: ENSP00000244728.5:p.Asp771Glu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*561T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.513T>A
  hgvsp: ENSP00000359844.2:p.Asp171Glu
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.173T>A
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp771Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-55925733-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925733
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925733
    reference: chr 6
allele count: 2
allele frequency: 1.704681054174764e-5
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2299G>T
  hgvsp: ENSP00000359855.1:p.Gly767Trp
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*556G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2308G>T
  hgvsp: ENSP00000444384.1:p.Gly770Trp
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.243G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.508G>T
  hgvsp: ENSP00000359844.2:p.Gly170Trp
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.168G>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2308G>T
  hgvsp: ENSP00000244728.5:p.Gly770Trp
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.659G>T
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18669
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly770Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

6-55925734-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925734
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925734
    reference: chr 6
allele count: 11
allele frequency: 9.36616600252035e-5
allele num: 117444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*555T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2307T>A
  hgvsp: ENST00000244728.5:c.2307T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.507T>A
  hgvsp: ENST00000370808.2:c.507T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2298T>A
  hgvsp: ENST00000370819.1:c.2298T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.242T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.658T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.167T>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2307T>A
  hgvsp: ENST00000535941.1:c.2307T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro769Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

6-55925736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925736
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925736
    reference: chr 6
allele count: 1
allele frequency: 8.502967535669949e-6
allele num: 117606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*553C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2305C>T
  hgvsp: ENSP00000244728.5:p.Pro769Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2305C>T
  hgvsp: ENSP00000444384.1:p.Pro769Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.165C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.656C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.505C>T
  hgvsp: ENSP00000359844.2:p.Pro169Ser
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.240C>T
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2296C>T
  hgvsp: ENSP00000359855.1:p.Pro766Ser
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro769Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

6-55925740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55925740
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 55925740
    reference: chr 6
allele count: 1
allele frequency: 8.481620328747603e-6
allele num: 117902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000482933
  gene symbol: COL21A1
  hgvsc: ENST00000482933.1:n.236G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467045
  gene symbol: COL21A1
  hgvsc: ENST00000467045.1:n.652G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359844
  ensembl transcript: ENST00000370808
  gene symbol: COL21A1
  hgvsc: ENST00000370808.2:c.501G>A
  hgvsp: ENST00000370808.2:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000244728
  ensembl transcript: ENST00000244728
  gene symbol: COL21A1
  hgvsc: ENST00000244728.5:c.2301G>A
  hgvsp: ENST00000244728.5:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000444384
  ensembl transcript: ENST00000535941
  gene symbol: COL21A1
  hgvsc: ENST00000535941.1:c.2301G>A
  hgvsp: ENST00000535941.1:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124749
  ensembl transcript: ENST00000467216
  gene symbol: COL21A1
  hgvsc: ENST00000467216.2:n.161G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000433624
  ensembl transcript: ENST00000488912
  gene symbol: COL21A1
  hgvsc: ENST00000488912.1:c.*549G>A
  variant of: http://identifiers.org/hgnc/17025
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124749
  ensembl protein: ENSP00000359855
  ensembl transcript: ENST00000370819
  gene symbol: COL21A1
  hgvsc: ENST00000370819.1:c.2292G>A
  hgvsp: ENST00000370819.1:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17025
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly767Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4320
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60742
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.313715186547556e-4
allele num: 7612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 2.545e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.547576e6

GenotypeQuality
all individuals: 858
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690960127160202e-5
allele num: 59138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.197e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

DP
type: SiteQuality
SIO_000300: 1.503239e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.661e1

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 619
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.387732445184569e-4
allele num: 14412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 6.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.324985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

GenotypeQuality
all individuals: 22361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.114399544678429e-5
allele num: 14056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.119e0

DP
type: SiteQuality
SIO_000300: 1.257389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.669e1

VQSLOD
type: SiteQuality
SIO_000300: -1.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -3.896e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeQuality
all individuals: 5147
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 994
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.677852348993289e-4
allele num: 5960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 4.846e1

MQRankSum
type: SiteQuality
SIO_000300: -3.204e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 3.222e0

QD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

DP
type: SiteQuality
SIO_000300: 1.239725e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

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

GenotypeQuality
all individuals: 265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23714
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.036908787224508e-5
allele num: 49094
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.230849e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13446
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.427755568246716e-4
allele num: 7004
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

FS
type: SiteQuality
SIO_000300: 1.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.675e1

DP
type: SiteQuality
SIO_000300: 1.160252e6

VQSLOD
type: SiteQuality
SIO_000300: 9.900000000000001e-3

GenotypeQuality
all individuals: 1757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.239140170174653e-5
allele num: 44660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.561e0

DP
type: SiteQuality
SIO_000300: 1.121301e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.325e1

GenotypeQuality
all individuals: 540
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5149
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7032
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.957713390759593e-4
allele num: 5108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13090
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

DP
type: SiteQuality
SIO_000300: 1.09204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1024e1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42164
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.902757619738752e-4
allele num: 6890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 3.636e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

DP
type: SiteQuality
SIO_000300: 1.068604e6

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 4.761904761904762e-3
allele num: 4620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39876
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.422e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.02142e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

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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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.320185614849188e-4
allele num: 4310
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.312084993359894e-5
allele num: 37650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.393e1

DP
type: SiteQuality
SIO_000300: 9.79694e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-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
all individuals: 509
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.145975887911372e-5
allele num: 12276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 9.62967e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.07e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-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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variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.311831666091756e-4
allele num: 11596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

QD
type: SiteQuality
SIO_000300: 1.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

DP
type: SiteQuality
SIO_000300: 8.84947e5

MQ
type: SiteQuality
SIO_000300: 5.748e1

FS
type: SiteQuality
SIO_000300: 6.475e0

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.536e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 167

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25606
num of homozygotes: 0

South Asian
type: Population
allele count: 166
allele frequency: 1.550822122571002e-2
allele num: 10704
num of homozygotes: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 7.78816199376947e-4
allele num: 2568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.974e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.624e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 1.295840352468576e-4
allele num: 15434
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 count: 0
allele frequency: 0.0e0
allele num: 2052
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
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allele frequency: 1.128413450688332e-4
allele num: 8862
num of homozygotes: 0

Latino
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allele count: 0
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
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allele num: 278
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African
type: Population
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4252
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.48941996514812e-4
allele num: 8034
num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 2
allele frequency: 1.807991321641656e-4
allele num: 11062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 17
allele frequency: 1.835456704815375e-3
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61134386077989e-5
allele num: 62060
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.344191e6

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4530
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variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.236705416769726e-3
allele num: 8086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.874e1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.411724e6

GenotypeQuality
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bin: 7.5e0
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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bin: 9.75e1
variant carriers: 1

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: 355
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-5
allele num: 62880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.101e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.639e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.447655e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.139952921035737e-4
allele num: 9346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.452191e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 1.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

VQSLOD
type: SiteQuality
SIO_000300: -3.727e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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
all individuals: 413
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GenotypeQuality
all individuals: 1265
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.113271344040575e-4
allele num: 9464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.41287284144427e-4
allele num: 63700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12926
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.719e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 9.27e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

DP
type: SiteQuality
SIO_000300: 1.49478e6

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
all individuals: 41728
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variant carriers: 0

GenotypeQuality
all individuals: 153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3277
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.539203860072376e-5
allele num: 13264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.505846e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 3.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 110
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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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556032738928827e-5
allele num: 64266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

FS
type: SiteQuality
SIO_000300: 2.163e0

DP
type: SiteQuality
SIO_000300: 1.512283e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.558e1

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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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13792
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.521742e6

FS
type: SiteQuality
SIO_000300: 5.072e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.376e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.033e1

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.062974761087968e-5
allele num: 65296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

QD
type: SiteQuality
SIO_000300: 1.045e1

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
all individuals: 5266
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52592547379986e-5
allele num: 65534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -8.704e-1

FS
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.552882e6

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524576167825345e-5
allele num: 65592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.843e-1

FS
type: SiteQuality
SIO_000300: 9.186999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.229e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.555165e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

GenotypeQuality
all individuals: 45490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.56207e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.663e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

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

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

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 9.75e1
variant carriers: 23

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.735312889402182e-4
allele num: 65806
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.434178355424013e-5
allele num: 15542
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744591765526867e-4
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

DP
type: SiteQuality
SIO_000300: 1.563631e6

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

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.076810889645114e-5
allele num: 65824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 1.563776e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.834e-1

FS
type: SiteQuality
SIO_000300: 9.773999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.873e-1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

DP
type: SiteQuality
SIO_000300: 1.564361e6

FS
type: SiteQuality
SIO_000300: 8.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.012e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.499e0

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.992e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

DP
type: SiteQuality
SIO_000300: 1.562636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 6.93e0

GenotypeQuality
all individuals: 1342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 4.75e1
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GenotypeQuality
all individuals: 5342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036191401505951e-5
allele num: 65872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.515546381112114e-4
allele num: 15502
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.562941e6

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

GenotypeQuality
all individuals: 44923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.25e1
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GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
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GenotypeQuality
all individuals: 3458
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5336
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.340520513832792e-4
allele num: 65858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-4
allele num: 6562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

DP
type: SiteQuality
SIO_000300: 1.562683e6

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.25e1
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GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.051e0

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.560637e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
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SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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FS
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SIO_000300: 1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
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DP
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VQSLOD
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SIO_000300: -2.838e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15284
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 3.74e0

ClippingRankSum
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SIO_000300: -1.148e0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.41e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.557057e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.081e0

FS
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

DP
type: SiteQuality
SIO_000300: 1.55712e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521329033043267e-5
allele num: 65732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.271e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.077e0

VQSLOD
type: SiteQuality
SIO_000300: -4.921e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.548635e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 7.33e0

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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65724
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.547861e6

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521931026085898e-5
allele num: 65706
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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African
type: Population
allele count: 0
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Other
type: Population
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ReadPosRankSum
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SIO_000300: 3.06e0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.623578202665203e-5
allele num: 65586
num of homozygotes: 0

Other
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East Asian
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allele frequency: 2.355712603062426e-4
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South Asian
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allele frequency: 9.432691011992993e-4
allele num: 14842
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Latino
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allele frequency: 1.743679163034002e-4
allele num: 11470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65524
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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ReadPosRankSum
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SIO_000300: -5.639999999999999e-1

ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.531395e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.051e0

DP
type: SiteQuality
SIO_000300: 1.529462e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.585613402219437e-5
allele num: 65422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

FS
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.051e1

DP
type: SiteQuality
SIO_000300: 1.527e6

GenotypeQuality
all individuals: 3430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -7.405e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.701e0

FS
type: SiteQuality
SIO_000300: 2.515e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.525365e6

GenotypeQuality
all individuals: 828
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 7.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
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: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.664e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 1.523666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.722e1

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 818
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.52459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 1.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 1185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 631
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variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 992
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GenotypeQuality
all individuals: 39370
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2946
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variant carriers: 0

GenotypeQuality
all individuals: 915
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GenotypeQuality
all individuals: 5063
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.652046157142419e-5
allele num: 65342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.115e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.508e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 1.520537e6

GenotypeQuality
all individuals: 2970
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1313
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.746114894360049e-4
allele num: 11454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531581204435459e-5
allele num: 65292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.509e1

DP
type: SiteQuality
SIO_000300: 1.519026e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 5066
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3430
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.907031357922365e-5
allele num: 14478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

FS
type: SiteQuality
SIO_000300: 3.544e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 1.102e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

DP
type: SiteQuality
SIO_000300: 1.519189e6

GenotypeQuality
all individuals: 39172
bin: 6.25e1
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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bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.129141000888725e-5
allele num: 65262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.651e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 1.0762e1

DP
type: SiteQuality
SIO_000300: 1.517082e6

VQSLOD
type: SiteQuality
SIO_000300: -1.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

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
all individuals: 458
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GenotypeQuality
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GenotypeQuality
all individuals: 1089
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variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.608719697667988e-5
allele num: 65094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.149e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.946e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.517679e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 1350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 626
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14154
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 1.519705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 3431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19703136222169e-4
allele num: 8354
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.519371e6

VQSLOD
type: SiteQuality
SIO_000300: -2.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.898e1

QD
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 1.4962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
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: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198178768272226e-4
allele num: 8346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.683e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

FS
type: SiteQuality
SIO_000300: 1.745e0

DP
type: SiteQuality
SIO_000300: 1.521761e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.466e0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.681199496113313e-5
allele num: 65094
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.522385e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.192e0

QD
type: SiteQuality
SIO_000300: 1.151e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2960
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -5.732e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.668e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.522578e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5035
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.860592755214051e-5
allele num: 14576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 3.524e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e0

DP
type: SiteQuality
SIO_000300: 1.531592e6

MQRankSum
type: SiteQuality
SIO_000300: -1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.769e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.853070175438596e-5
allele num: 14592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.155e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 1.533225e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 2.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.533225e6

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: -3.155e-1

GenotypeQuality
all individuals: 5038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.622836160167862e-4
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533366045142296e-5
allele num: 65216
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.024e0

QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 8.760999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.533602e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5038
bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.83433570256971e-5
allele num: 14632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 8.760999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 1.533602e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65194
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.078877966914409e-3
allele num: 8342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 4.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.534626e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.072271070126528e-4
allele num: 65282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 1.839e0

QD
type: SiteQuality
SIO_000300: 1.604e1

DP
type: SiteQuality
SIO_000300: 1.545089e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-5
allele num: 65300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

DP
type: SiteQuality
SIO_000300: 1.545413e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -4.815e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
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allele num: 872
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
allele num: 8344
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.053388090349076e-4
allele num: 9740
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VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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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: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

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

African
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allele count: 7
allele frequency: 7.183908045977011e-4
allele num: 9744
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East Asian
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allele frequency: 4.790419161676647e-4
allele num: 8350
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South Asian
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 2.487e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 65458
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6544
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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Other
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South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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