12-6948226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948226
    reference: chr 12
allele count: 3
allele frequency: 2.546473134708429e-5
allele num: 117810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2598T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1967T>C
  hgvsp: ENSP00000475535.1:p.Met656Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1501T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1413T>C
  hgvsp: ENST00000251761.8:c.1413T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1965T>C
  hgvsp: ENST00000396725.2:c.1965T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met656Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-6948229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948229
    reference: chr 12
allele count: 49
allele frequency: 4.160581462486839e-4
allele num: 117772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2601G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1968G>A
  hgvsp: ENST00000396725.2:c.1968G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1504G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1416G>A
  hgvsp: ENST00000251761.8:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1970G>A
  hgvsp: ENSP00000475535.1:p.Gly657Glu
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22726
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24986
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8153
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly657Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-6948230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948230
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948230
    reference: chr 12
allele count: 1
allele frequency: 8.489973341483707e-6
allele num: 117786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1417G>A
  hgvsp: ENSP00000475896.1:p.Val473Met
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2602G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1969G>A
  hgvsp: ENSP00000379951.2:p.Val657Met
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1505G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1971G>A
  hgvsp: ENST00000606935.1:c.1971G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8165
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val657Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-6948233-TGGGCCGTGACTCG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948220
    reference: chr 12
allele count: 5
allele frequency: 4.243905751341074e-5
allele num: 117816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsp: ENSP00000475535.1:p.Pro660Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsp: ENSP00000379951.2:p.Ala659AspfsTer22
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsp: ENSP00000475896.1:p.Ala475AspfsTer22
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala659AspfsTer22
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: TGGGCCGTGACTCG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

12-6948234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948234
    reference: chr 12
allele count: 3
allele frequency: 2.547813975608928e-5
allele num: 117748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1975G>A
  hgvsp: ENSP00000475535.1:p.Gly659Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1973G>A
  hgvsp: ENSP00000379951.2:p.Trp658Ter
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1421G>A
  hgvsp: ENSP00000475896.1:p.Trp474Ter
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1509G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2606G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp658Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-6948234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948234
    reference: chr 12
allele count: 1
allele frequency: 8.492713252029759e-6
allele num: 117748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2606G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1975G>C
  hgvsp: ENSP00000475535.1:p.Gly659Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1421G>C
  hgvsp: ENSP00000475896.1:p.Trp474Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1509G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1973G>C
  hgvsp: ENSP00000379951.2:p.Trp658Ser
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp658Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-6948238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948238
    reference: chr 12
allele count: 7
allele frequency: 5.950458185280267e-5
allele num: 117638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1977C>T
  hgvsp: ENST00000396725.2:c.1977C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1513C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1425C>T
  hgvsp: ENST00000251761.8:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1979C>T
  hgvsp: ENSP00000475535.1:p.Pro660Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2610C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22287
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro660Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-6948243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948243
    reference: chr 12
allele count: 1
allele frequency: 8.515276405872134e-6
allele num: 117436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1430C>T
  hgvsp: ENSP00000475896.1:p.Thr477Ile
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1982C>T
  hgvsp: ENSP00000379951.2:p.Thr661Ile
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2615C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1984C>T
  hgvsp: ENSP00000475535.1:p.Leu662Phe
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1518C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr661Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

12-6948245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948245
    reference: chr 12
allele count: 9
allele frequency: 7.679705099324186e-5
allele num: 117192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1432C>T
  hgvsp: ENSP00000475896.1:p.Arg478Trp
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2617C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1520C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1986C>T
  hgvsp: ENST00000606935.1:c.1986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1984C>T
  hgvsp: ENSP00000379951.2:p.Arg662Trp
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg662Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-6948247-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948247
    reference: chr 12
allele count: 1
allele frequency: 8.536356341659126e-6
allele num: 117146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1434G>C
  hgvsp: ENST00000251761.8:c.1434G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1988G>C
  hgvsp: ENSP00000475535.1:p.Gly663Ala
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1986G>C
  hgvsp: ENST00000396725.2:c.1986G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1522G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2619G>C
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly663Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-6948251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948251
    reference: chr 12
allele count: 6
allele frequency: 5.134612422338987e-5
allele num: 116854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1526C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2623C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1990C>T
  hgvsp: ENSP00000379951.2:p.Arg664Trp
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1992C>T
  hgvsp: ENST00000606935.1:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1438C>T
  hgvsp: ENSP00000475896.1:p.Arg480Trp
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg664Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-6948251-C-CGGCGCTGTGCCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948264
    reference: chr 12
allele count: 1
allele frequency: 8.557687370564979e-6
allele num: 116854
alternate allele: CGGCGCTGTGCCCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsp: ENSP00000475896.1:p.Trp487CysfsTer11
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsp: ENSP00000475535.1:p.His670ArgfsTer?
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsp: ENSP00000379951.2:p.Trp671CysfsTer11
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp671CysfsTer11
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-6948252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948252
    reference: chr 12
allele count: 1
allele frequency: 8.557540905045526e-6
allele num: 116856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1439G>A
  hgvsp: ENSP00000475896.1:p.Arg480Gln
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2624G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1991G>A
  hgvsp: ENSP00000379951.2:p.Arg664Gln
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1993G>A
  hgvsp: ENSP00000475535.1:p.Gly665Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1527G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg664Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-6948254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948254
    reference: chr 12
allele count: 4
allele frequency: 3.427944604415193e-5
allele num: 116688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1995C>T
  hgvsp: ENST00000606935.1:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1993C>T
  hgvsp: ENSP00000379951.2:p.Arg665Cys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1441C>T
  hgvsp: ENSP00000475896.1:p.Arg481Cys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1529C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2626C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 38462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg665Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-6948255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948255
    reference: chr 12
allele count: 2
allele frequency: 1.716355148207267e-5
allele num: 116526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1442G>A
  hgvsp: ENSP00000475896.1:p.Arg481His
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.1996G>A
  hgvsp: ENSP00000475535.1:p.Ala666Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1530G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.1994G>A
  hgvsp: ENSP00000379951.2:p.Arg665His
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2627G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg665His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

12-6948263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948263
    reference: chr 12
allele count: 1
allele frequency: 8.618906433151761e-6
allele num: 116024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2635C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2004C>T
  hgvsp: ENST00000606935.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2002C>T
  hgvsp: ENST00000396725.2:c.2002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1450C>T
  hgvsp: ENST00000251761.8:c.1450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1538C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu668Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-6948268-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948268
    reference: chr 12
allele count: 1
allele frequency: 8.659958085802864e-6
allele num: 115474
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2007A>G
  hgvsp: ENST00000396725.2:c.2007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2009A>G
  hgvsp: ENSP00000475535.1:p.His670Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1455A>G
  hgvsp: ENST00000251761.8:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1543A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2640A>G
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His670Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-6948269-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948269
    reference: chr 12
allele count: 1
allele frequency: 8.659958085802864e-6
allele num: 115474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1544C>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1456C>A
  hgvsp: ENSP00000475896.1:p.Leu486Met
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2010C>A
  hgvsp: ENSP00000475535.1:p.His670Gln
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2641C>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2008C>A
  hgvsp: ENSP00000379951.2:p.Leu670Met
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu670Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-6948277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948277
    reference: chr 12
allele count: 1
allele frequency: 8.717635777177229e-6
allele num: 114710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1464C>T
  hgvsp: ENST00000251761.8:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2016C>T
  hgvsp: ENST00000396725.2:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2649C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1552C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2018C>T
  hgvsp: ENSP00000475535.1:p.Thr673Ile
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr673Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-6948279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948279
    reference: chr 12
allele count: 1
allele frequency: 8.730422028600862e-6
allele num: 114542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2651C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2018C>T
  hgvsp: ENSP00000379951.2:p.Thr673Met
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1466C>T
  hgvsp: ENSP00000475896.1:p.Thr489Met
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1554C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2020C>T
  hgvsp: ENSP00000475535.1:p.Arg674Cys
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr673Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-6948280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948280
    reference: chr 12
allele count: 2
allele frequency: 1.74800727171025e-5
allele num: 114416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2652G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2021G>A
  hgvsp: ENSP00000475535.1:p.Arg674His
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1555G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1467G>A
  hgvsp: ENST00000251761.8:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2019G>A
  hgvsp: ENST00000396725.2:c.2019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg674His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

12-6948287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948287
    reference: chr 12
allele count: 2
allele frequency: 1.757561910118284e-5
allele num: 113794
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2026C>T
  hgvsp: ENSP00000379951.2:p.Pro676Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1474C>T
  hgvsp: ENSP00000475896.1:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2028C>T
  hgvsp: ENST00000606935.1:c.2028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2659C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1562C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19377
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22653
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro676Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-6948293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948293
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948293
    reference: chr 12
allele count: 1
allele frequency: 8.855983988380948e-6
allele num: 112918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2032C>T
  hgvsp: ENSP00000379951.2:p.His678Tyr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2665C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1480C>T
  hgvsp: ENSP00000475896.1:p.His494Tyr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1568C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2034C>T
  hgvsp: ENST00000606935.1:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34886
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His678Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-6948304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948304
    reference: chr 12
allele count: 5
allele frequency: 4.494947678809019e-5
allele num: 111236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491G>A
  hgvsp: ENST00000251761.8:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043G>A
  hgvsp: ENST00000396725.2:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045G>A
  hgvsp: ENSP00000475535.1:p.Arg682Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16299
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg682Lys
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: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-6948307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948307
    reference: chr 12
allele count: 1
allele frequency: 9.006088115566123e-6
allele num: 111036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+3A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+3A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+3A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+3A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+3A>G
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2043+3A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-6948313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948313
    reference: chr 12
allele count: 1
allele frequency: 9.109957183201239e-6
allele num: 109770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+9C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+9C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+9C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+9C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+9C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-6948314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948314
    reference: chr 12
allele count: 2
allele frequency: 1.828019888856391e-5
allele num: 109408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+10G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+10G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+10G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+10G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+10G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18502
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26501
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-6948315-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948315
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948315
    reference: chr 12
allele count: 55
allele frequency: 5.022280663306304e-4
allele num: 109512
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+11G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+11G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+11G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+11G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+11G>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18454
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-6948319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948319
    reference: chr 12
allele count: 1
allele frequency: 9.157006025309965e-6
allele num: 109206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+15A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+15A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+15A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+15A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+15A>G
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

12-6948338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948338
    reference: chr 12
allele count: 1
allele frequency: 9.451081203689702e-6
allele num: 105808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+34C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+34C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+34C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+34C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+34C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-6948341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948341
    reference: chr 12
allele count: 1
allele frequency: 9.476157986505951e-6
allele num: 105528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+37G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+37G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+37G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+37G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+37G>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-6948344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948344
    reference: chr 12
allele count: 5
allele frequency: 4.782034851469998e-5
allele num: 104558
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+40C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+40C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+40C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+40C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+40C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-6948345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948345
    reference: chr 12
allele count: 25
allele frequency: 2.401121804106879e-4
allele num: 104118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+41G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+41G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+41G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+41G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+41G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-6948353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948353
    reference: chr 12
allele count: 1
allele frequency: 9.756287927569319e-6
allele num: 102498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2676+49T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1491+49T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2043+49T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1579+49T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2045+49T>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10363
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/12-6948412-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948412
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 30738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046-49A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044-49A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580-49A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492-49A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677-49A>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

12-6948421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948421
    reference: chr 12
allele count: 1
allele frequency: 3.74335554390956e-5
allele num: 26714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677-40G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492-40G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046-40G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580-40G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044-40G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-6948425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948425
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 24988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046-36G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492-36G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580-36G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044-36G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677-36G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29053
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28042
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-6948433-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948433
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 23418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046-28T>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677-28T>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492-28T>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580-28T>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044-28T>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-6948458-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948458
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492-3C>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046-3C>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044-3C>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580-3C>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677-3C>G
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2044-3C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-6948461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948461
    reference: chr 12
allele count: 1
allele frequency: 4.52447742285766e-5
allele num: 22102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1492G>A
  hgvsp: ENSP00000475896.1:p.Glu498Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2044G>A
  hgvsp: ENSP00000379951.2:p.Glu682Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2046G>A
  hgvsp: ENST00000606935.1:c.2046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1580G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2677G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu682Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-6948468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948468
    reference: chr 12
allele count: 9363
allele frequency: 3.942979870293944e-1
allele num: 23746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2051T>C
  hgvsp: ENSP00000379951.2:p.Ile684Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1587T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1499T>C
  hgvsp: ENSP00000475896.1:p.Ile500Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2053T>C
  hgvsp: ENSP00000475535.1:p.Ter685GlnextTer?
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2684T>C
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 1373
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 718
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 709
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 631
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 756
genotype depth: GenotypeDepth
  all individuals: 22336
  bin: 2.5e0
  variant carriers: 3770
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 7.5e0
  variant carriers: 7632
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 567
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 358
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 2.25e1
  variant carriers: 1585
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 502
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 1922
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 667
genotype quality: GenotypeQuality
  all individuals: 7193
  bin: 2.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 342
genotype quality: GenotypeQuality
  all individuals: 16153
  bin: 7.5e0
  variant carriers: 1572
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 1369
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 672
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.25e1
  variant carriers: 297
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 139
hgvs: p.Ter685GlnextTer?
num of homozygotes: 1793
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-6948475-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948475
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948475
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2060C>G
  hgvsp: ENSP00000475535.1:p.Pro687Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1594C>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1506C>G
  hgvsp: ENST00000251761.8:c.1506C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2058C>G
  hgvsp: ENST00000396725.2:c.2058C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2691C>G
  variant of: http://identifiers.org/hgnc/19318
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32363
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro687Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

12-6948476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948476
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1507A>G
  hgvsp: ENSP00000475896.1:p.Lys503Glu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2059A>G
  hgvsp: ENSP00000379951.2:p.Lys687Glu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2692A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1595A>G
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2061A>G
  hgvsp: ENST00000606935.1:c.2061A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32516
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys687Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

12-6948500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948500
    reference: chr 12
allele count: 1
allele frequency: 4.552490212146044e-5
allele num: 21966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2716G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2085G>A
  hgvsp: ENST00000606935.1:c.2085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2083G>A
  hgvsp: ENSP00000379951.2:p.Glu695Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1531G>A
  hgvsp: ENSP00000475896.1:p.Glu511Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1619G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu695Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

12-6948505-G-GGAGGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948505
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948511
    reference: chr 12
allele count: 11
allele frequency: 4.994551398474392e-4
allele num: 22024
alternate allele: GGAGGAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1639_1644dupGGAAGA
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2105_2110dupGGAAGA
  hgvsp: ENSP00000475535.1:p.Arg702_Lys703dup
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1551_1556dupGGAAGA
  hgvsp: ENSP00000475896.1:p.Glu518_Glu519dup
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2736_2741dupGGAAGA
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2103_2108dupGGAAGA
  hgvsp: ENSP00000379951.2:p.Glu702_Glu703dup
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33178
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31533
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu702_Glu703dup
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-6948515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948515
    reference: chr 12
allele count: 12
allele frequency: 5.486968449931413e-4
allele num: 21870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1546G>A
  hgvsp: ENSP00000475896.1:p.Glu516Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2731G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2098G>A
  hgvsp: ENSP00000379951.2:p.Glu700Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2100G>A
  hgvsp: ENST00000606935.1:c.2100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1634G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33264
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5950
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu700Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

12-6948523-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948522
    reference: chr 12
allele count: 1
allele frequency: 4.583791712504584e-5
allele num: 21816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2740delG
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1643delG
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2109delG
  hgvsp: ENSP00000475535.1:p.Lys704AsnfsTer?
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2107delG
  hgvsp: ENSP00000379951.2:p.Glu703LysfsTer46
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1555delG
  hgvsp: ENSP00000475896.1:p.Glu519LysfsTer46
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu703LysfsTer46
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: AG
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-6948528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948528
    reference: chr 12
allele count: 121
allele frequency: 5.543846788234216e-3
allele num: 21826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1647T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2111T>C
  hgvsp: ENSP00000379951.2:p.Met704Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1559T>C
  hgvsp: ENSP00000475896.1:p.Met520Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2113T>C
  hgvsp: ENSP00000475535.1:p.Cys705Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2744T>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 7.5e0
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32677
  bin: 2.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 30698
  bin: 7.5e0
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 1.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 19
hgvs: p.Met704Thr
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-6948553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948553
    reference: chr 12
allele count: 3
allele frequency: 1.418976444991013e-4
allele num: 21142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2138G>C
  hgvsp: ENSP00000475535.1:p.Ser713Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1672G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1584G>C
  hgvsp: ENSP00000475896.1:p.Glu528Asp
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2136G>C
  hgvsp: ENSP00000379951.2:p.Glu712Asp
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2769G>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu712Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

12-6948554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948554
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2137C>T
  hgvsp: ENSP00000379951.2:p.Pro713Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1673C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2139C>T
  hgvsp: ENST00000606935.1:c.2139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1585C>T
  hgvsp: ENSP00000475896.1:p.Pro529Ser
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2770C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro713Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-6948558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948558
    reference: chr 12
allele count: 2
allele frequency: 9.648784253184099e-5
allele num: 20728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2141C>T
  hgvsp: ENSP00000379951.2:p.Pro714Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2143C>T
  hgvsp: ENST00000606935.1:c.2143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2774C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1589C>T
  hgvsp: ENSP00000475896.1:p.Pro530Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1677C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29338
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro714Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

12-6948561-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948561
    reference: chr 12
allele count: 1
allele frequency: 4.710315591144607e-5
allele num: 21230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2146G>A
  hgvsp: ENSP00000475535.1:p.Ala716Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2777G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1592G>A
  hgvsp: ENSP00000475896.1:p.Ser531Asn
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2144G>A
  hgvsp: ENSP00000379951.2:p.Ser715Asn
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1680G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29976
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6131
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser715Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-6948564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948564
    reference: chr 12
allele count: 1
allele frequency: 4.73798919738463e-5
allele num: 21106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2147G>A
  hgvsp: ENSP00000379951.2:p.Arg716His
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2149G>A
  hgvsp: ENSP00000475535.1:p.Ala717Thr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1595G>A
  hgvsp: ENSP00000475896.1:p.Arg532His
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1683G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2780G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg716His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-6948564-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948564
    reference: chr 12
allele count: 1
allele frequency: 4.73798919738463e-5
allele num: 21106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1683G>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2780G>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2147G>T
  hgvsp: ENSP00000379951.2:p.Arg716Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1595G>T
  hgvsp: ENSP00000475896.1:p.Arg532Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2149G>T
  hgvsp: ENSP00000475535.1:p.Ala717Ser
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg716Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS

12-6948578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948578
    reference: chr 12
allele count: 2
allele frequency: 9.567546880979717e-5
allele num: 20904
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2161G>C
  hgvsp: ENSP00000379951.2:p.Val721Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2794G>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2163G>C
  hgvsp: ENST00000606935.1:c.2163G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1609G>C
  hgvsp: ENSP00000475896.1:p.Val537Leu
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1697G>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val721Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-6948581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948581
    reference: chr 12
allele count: 1
allele frequency: 4.792026068621813e-5
allele num: 20868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1612C>A
  hgvsp: ENSP00000475896.1:p.Gln538Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2164C>A
  hgvsp: ENSP00000379951.2:p.Gln722Lys
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2797C>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1700C>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2166C>A
  hgvsp: ENST00000606935.1:c.2166C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln722Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-6948600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948600
    reference: chr 12
allele count: 1
allele frequency: 4.853897679836909e-5
allele num: 20602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2183C>T
  hgvsp: ENSP00000379951.2:p.Ala728Val
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1631C>T
  hgvsp: ENSP00000475896.1:p.Ala544Val
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2816C>T
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2185C>T
  hgvsp: ENSP00000475535.1:p.His729Tyr
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1719C>T
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala728Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-6948612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948612
    reference: chr 12
allele count: 1
allele frequency: 4.915937469275391e-5
allele num: 20342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2197G>A
  hgvsp: ENSP00000475535.1:p.Gly733Arg
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2195G>A
  hgvsp: ENSP00000379951.2:p.Arg732Gln
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1643G>A
  hgvsp: ENSP00000475896.1:p.Arg548Gln
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1731G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2828G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg732Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-6948625-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948625
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948625
    reference: chr 12
allele count: 1
allele frequency: 4.977105315548477e-5
allele num: 20092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.1656A>C
  hgvsp: ENSP00000475896.1:p.Ter552CysextTer7
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2841A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1744A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.2208A>C
  hgvsp: ENSP00000379951.2:p.Ter736CysextTer7
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475535
  ensembl transcript: ENST00000606935
  gene symbol: LEPREL2
  hgvsc: ENST00000606935.1:c.2210A>C
  hgvsp: ENST00000606935.1:c.2210A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15632
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ter736CysextTer7
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-6948648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948648
    reference: chr 12
allele count: 15
allele frequency: 7.677346708977377e-4
allele num: 19538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2864G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.*23G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1767G>A
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.*23G>A
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-6948657-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948657
    reference: chr 12
allele count: 4
allele frequency: 2.068680182043856e-4
allele num: 19336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2873A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.*32A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1776A>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.*32A>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-6948667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6948667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6948667
    reference: chr 12
allele count: 1
allele frequency: 5.235053921055387e-5
allele num: 19102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000475896
  ensembl transcript: ENST00000251761
  gene symbol: LEPREL2
  hgvsc: ENST00000251761.8:c.*42T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000110811
  ensembl protein: ENSP00000379951
  ensembl transcript: ENST00000396725
  gene symbol: LEPREL2
  hgvsc: ENST00000396725.2:c.*42T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000536140
  gene symbol: LEPREL2
  hgvsc: ENST00000536140.1:n.2883T>C
  variant of: http://identifiers.org/hgnc/19318
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110811
  ensembl transcript: ENST00000290510
  gene symbol: LEPREL2
  hgvsc: ENST00000290510.8:n.1786T>C
  variant of: http://identifiers.org/hgnc/19318
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-6950402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950402
    reference: chr 12
allele count: 2
allele frequency: 2.269117313365101e-5
allele num: 88140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-20C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-20C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-20C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-20C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.198C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-20C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-20C>T
  variant of: http://identifiers.org/hgnc/4400
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-6950403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950403
    reference: chr 12
allele count: 4955
allele frequency: 5.637215863842181e-2
allele num: 87898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-19G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-19G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-19G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.199G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-19G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-19G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-19G>A
  variant of: http://identifiers.org/hgnc/4400
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 1.25e1
  variant carriers: 2112
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 1.75e1
  variant carriers: 1369
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.25e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 7.5e0
  variant carriers: 1076
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 5.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 6.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 4.75e1
  variant carriers: 89
num of homozygotes: 173
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

12-6950406-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950406
    reference: chr 12
allele count: 7
allele frequency: 7.882705344474224e-5
allele num: 88802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-16C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-16C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.202C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-16C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-16C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-16C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-16C>G
  variant of: http://identifiers.org/hgnc/4400
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

12-6950407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950407
    reference: chr 12
allele count: 1
allele frequency: 1.125416404069506e-5
allele num: 88856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-15C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-15C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-15C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.203C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-15C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-15C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-15C>G
  variant of: http://identifiers.org/hgnc/4400
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-6950410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950410
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950410
    reference: chr 12
allele count: 1
allele frequency: 1.118768459679585e-5
allele num: 89384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-12T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-12T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-12T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-12T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.206T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-12T>C
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-12T>C
  variant of: http://identifiers.org/hgnc/4400
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-6950414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950414
    reference: chr 12
allele count: 1
allele frequency: 1.117443289753045e-5
allele num: 89490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-8C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-8C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-8C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-8C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-8C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.210C>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-8C>A
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7734
  bin: 3.25e1
  variant carriers: 0
hgvs: c.-30-8C>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-6950415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950415
    reference: chr 12
allele count: 1
allele frequency: 1.114603535522415e-5
allele num: 89718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1081-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.211C>T
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
hgvs: c.-30-7C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

12-6950437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950437
    reference: chr 12
allele count: 1
allele frequency: 1.032375289065081e-5
allele num: 96864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-15C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.233C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-15C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1096C>T
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-6950439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950439
    reference: chr 12
allele count: 7
allele frequency: 7.172719075334044e-5
allele num: 97592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1098C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-13C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.235C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27231
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29217
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-6950440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950440
    reference: chr 12
allele count: 4
allele frequency: 4.062893592816804e-5
allele num: 98452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1099G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.236G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-12G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-12G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

12-6950442-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950442
    reference: chr 12
allele count: 4
allele frequency: 4.013002126891127e-5
allele num: 99676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.238C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1101C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.-10C>G
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.-10C>G
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

12-6950456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6950456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 6950456
    reference: chr 12
allele count: 7
allele frequency: 6.6942085532859e-5
allele num: 104568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000442002
  ensembl transcript: ENST00000541257
  gene symbol: GNB3
  hgvsc: ENST00000541257.1:c.5G>A
  hgvsp: ENSP00000442002.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000414734
  ensembl transcript: ENST00000435982
  gene symbol: GNB3
  hgvsc: ENST00000435982.2:c.5G>A
  hgvsp: ENSP00000414734.2:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000444325
  ensembl transcript: ENST00000539127
  gene symbol: GNB3
  hgvsc: ENST00000539127.1:c.5G>A
  hgvsp: ENSP00000444325.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000229264
  ensembl transcript: ENST00000229264
  gene symbol: GNB3
  hgvsc: ENST00000229264.3:c.5G>A
  hgvsp: ENSP00000229264.3:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000542868
  gene symbol: GNB3
  hgvsc: ENST00000542868.1:n.252G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000439753
  ensembl transcript: ENST00000541978
  gene symbol: GNB3
  hgvsc: ENST00000541978.1:c.5G>A
  hgvsp: ENSP00000439753.2:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111664
  ensembl transcript: ENST00000540458
  gene symbol: GNB3
  hgvsc: ENST00000540458.1:n.1115G>A
  variant of: http://identifiers.org/hgnc/4400
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111664
  ensembl protein: ENSP00000445967
  ensembl transcript: ENST00000537035
  gene symbol: GNB3
  hgvsc: ENST00000537035.1:c.5G>A
  hgvsp: ENSP00000445967.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/4400
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Gly2Glu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 194
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056421541659025e-5
allele num: 65436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.430041152263375e-5
allele num: 15552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 6.601e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

DP
type: SiteQuality
SIO_000300: 1.527857e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.285842870001286e-4
allele num: 15554
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.379817799579537e-4
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 4.375911648260054e-3
allele num: 9598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.104e0

DP
type: SiteQuality
SIO_000300: 1.527547e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.041e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 1.525564e6

GenotypeQuality
all individuals: 2002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.381352961794602e-4
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.81e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 1.52554e6

MQRankSum
type: SiteQuality
SIO_000300: -2.752e0

MQ
type: SiteQuality
SIO_000300: 5.372e1

QD
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.583371528096068e-5
allele num: 65454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.525234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.656e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.525234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.656e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

GenotypeQuality
all individuals: 975
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 8063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.113964294448521e-5
allele num: 65424
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.082465639316951e-4
allele num: 9604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.523405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.454111268878275e-5
allele num: 15494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

DP
type: SiteQuality
SIO_000300: 1.516702e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.594706798131811e-4
allele num: 15416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
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: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.656967840735069e-5
allele num: 65300
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.512726e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 1.152e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeQuality
all individuals: 7860
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 559
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531487380543984e-5
allele num: 65296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

VQSLOD
type: SiteQuality
SIO_000300: -2.932e0

QD
type: SiteQuality
SIO_000300: 3.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 1.510229e6

GenotypeQuality
all individuals: 38080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.857544517338331e-4
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533789380042332e-5
allele num: 65198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.502652e6

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.502652e6

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

GenotypeQuality
all individuals: 38443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533695285420693e-5
allele num: 65202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.792e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.502207e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.488e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.059e0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.140243153628883e-5
allele num: 65144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 1.499777e6

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 3.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.319957761351637e-4
allele num: 15152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.495518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

FS
type: SiteQuality
SIO_000300: 3.161e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38016
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 4.447e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.482842e6

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1165
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543257507947776e-5
allele num: 64798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

FS
type: SiteQuality
SIO_000300: 1.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.46e0

DP
type: SiteQuality
SIO_000300: 1.469218e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: -8.387e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14700
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64806
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 1.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
type: SiteQuality
SIO_000300: 1.022e1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.469797e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

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: 1748
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547987616099071e-5
allele num: 64600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.125e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.453144e6

QD
type: SiteQuality
SIO_000300: 9.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7028
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variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.222493887530562e-3
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64546
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 1.451495e6

GenotypeQuality
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bin: 1.25e1
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
all individuals: 301
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GenotypeQuality
all individuals: 35833
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.100582909587002e-5
allele num: 64504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.302e0

DP
type: SiteQuality
SIO_000300: 1.445495e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

FS
type: SiteQuality
SIO_000300: 3.488e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110613412965037e-5
allele num: 64296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.43288e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.87e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563917300053173e-5
allele num: 63942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.93e0

MQ
type: SiteQuality
SIO_000300: 5.635e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 7.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 30979
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 6013
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.8976465013426e-5
allele num: 63310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.198e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 763
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5620
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13030
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581427712939242e-5
allele num: 63234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 8.09e0

DP
type: SiteQuality
SIO_000300: 1.358273e6

FS
type: SiteQuality
SIO_000300: 6.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 1419
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.102049812651532e-4
allele num: 9074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.48e0

VQSLOD
type: SiteQuality
SIO_000300: -8.022e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.322875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5293
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.337068160597572e-5
allele num: 10710
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596474983237013e-5
allele num: 62638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

QD
type: SiteQuality
SIO_000300: 1.531e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.300572e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 5279
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.105460977227504e-4
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.644314868804665e-4
allele num: 5488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 8.292931870375095e-4
allele num: 62704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 1.298799e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.216e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.108401684770561e-4
allele num: 9022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.597e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.283852e6

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61156
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

FS
type: SiteQuality
SIO_000300: 1.576e0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.130296e6

GenotypeQuality
all individuals: 2444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6335
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GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637626097209485e-5
allele num: 61064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 1.108824e6

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11254
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variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.578457684737878e-4
allele num: 11178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.650546330835507e-5
allele num: 60586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.09787e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 932
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658319790388379e-5
allele num: 60302
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 2.195516524150682e-3
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.944773175542406e-4
allele num: 10140
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.255335174491589e-4
allele num: 7966
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 1.089932e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679261125104954e-5
allele num: 59550
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 8.76e0

DP
type: SiteQuality
SIO_000300: 1.075865e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.83e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.34574e5

MQRankSum
type: SiteQuality
SIO_000300: -1.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.54e-2

GenotypeQuality
all individuals: 170
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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: 1122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13058
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.5486160397445e-4
allele num: 2818
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.158e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.02889e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.22e-2

QD
type: SiteQuality
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GenotypeQuality
all individuals: 426
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 171
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2674
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.57e-2

DP
type: SiteQuality
SIO_000300: 4.88265e5

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 4.76763e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -2.223e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.19e-2

QD
type: SiteQuality
SIO_000300: 1.018e1

DP
type: SiteQuality
SIO_000300: 4.67839e5

GenotypeQuality
all individuals: 4649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.244482173174873e-4
allele num: 2356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.032e0

DP
type: SiteQuality
SIO_000300: 4.68128e5

FS
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 3.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 7778
bin: 9.75e1
variant carriers: 7410

GenotypeQuality
all individuals: 651
bin: 6.75e1
variant carriers: 231

GenotypeQuality
all individuals: 595
bin: 5.25e1
variant carriers: 561

GenotypeQuality
all individuals: 373
bin: 7.75e1
variant carriers: 239

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 166

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 460

European (Non-Finnish)
type: Population
allele count: 4266
allele frequency: 3.918794782289179e-1
allele num: 10886
num of homozygotes: 794

Latino
type: Population
allele count: 214
allele frequency: 4.053030303030303e-1
allele num: 528
num of homozygotes: 41

East Asian
type: Population
allele count: 342
allele frequency: 4.24317617866005e-1
allele num: 806
num of homozygotes: 74

European (Finnish)
type: Population
allele count: 332
allele frequency: 4.368421052631579e-1
allele num: 760
num of homozygotes: 46

South Asian
type: Population
allele count: 3125
allele frequency: 3.87909632571996e-1
allele num: 8056
num of homozygotes: 623

Other
type: Population
allele count: 90
allele frequency: 3.947368421052632e-1
allele num: 228
num of homozygotes: 15

African
type: Population
allele count: 994
allele frequency: 4.004834810636583e-1
allele num: 2482
num of homozygotes: 200

VQSLOD
type: SiteQuality
SIO_000300: 9.109999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 5.76753e5

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 2.002e1

FS
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.249e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 2.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.34e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.62907e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.847e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 4.63312e5

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.018952516812716e-4
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

MQ
type: SiteQuality
SIO_000300: 5.618e1

QD
type: SiteQuality
SIO_000300: 1.445e1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 4.59501e5

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 1084
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7418
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.386787695410994e-3
allele num: 7932
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.309e1

MQRankSum
type: SiteQuality
SIO_000300: -4.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

FS
type: SiteQuality
SIO_000300: 4.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 4.56614e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.51285930408472e-3
allele num: 7932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.255e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 4.52546e5

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.0315659170621e-4
allele num: 9694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.46273e5

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 3.916e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.16e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 6376
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1081
bin: 1.75e1
variant carriers: 35

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5992
bin: 6.25e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.722652885443583e-3
allele num: 2322
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.252252252252252e-3
allele num: 444
num of homozygotes: 0

East Asian
type: Population
allele count: 79
allele frequency: 1.138328530259366e-1
allele num: 694
num of homozygotes: 2

Other
type: Population
allele count: 3
allele frequency: 1.388888888888889e-2
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 4.163512490537472e-3
allele num: 7926
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.49552e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.787878787878788e-4
allele num: 7920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.69e0

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

FS
type: SiteQuality
SIO_000300: 3.765e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.16038e5

GenotypeQuality
all individuals: 380
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
type: SiteQuality
SIO_000300: -1.756e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

QD
type: SiteQuality
SIO_000300: 1.327e1

DP
type: SiteQuality
SIO_000300: 4.17395e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 3318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.415458937198068e-3
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.108156028368794e-4
allele num: 9024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.068e2

FS
type: SiteQuality
SIO_000300: 1.51971e2

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 4.19577e5

GenotypeQuality
all individuals: 1036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.072731173567904e-4
allele num: 9322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.848e0

VQSLOD
type: SiteQuality
SIO_000300: -2.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.12428e5

QD
type: SiteQuality
SIO_000300: 6.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

GenotypeQuality
all individuals: 573
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6116
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.07431e5

FS
type: SiteQuality
SIO_000300: 5.982e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.63e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.63e-2

DP
type: SiteQuality
SIO_000300: 4.07431e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 5.982e0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6220
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.144654088050315e-3
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

DP
type: SiteQuality
SIO_000300: 3.95294e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.71e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.647e-1

FS
type: SiteQuality
SIO_000300: 5.747e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.91079e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6123
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.111111111111111e-4
allele num: 9000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.824e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.53e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.190000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.95e-1

DP
type: SiteQuality
SIO_000300: 3.69552e5

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.270971021860702e-4
allele num: 7868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.94e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 3.52071e5

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.135073779795687e-4
allele num: 8810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.37009e5

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

GenotypeQuality
all individuals: 187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 1.890359168241966e-3
allele num: 2116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.047242262043286e-3
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.098901098901099e-2
allele num: 182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 2.96734e5

QD
type: SiteQuality
SIO_000300: 1.257e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.057343792263998e-4
allele num: 7394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 2.82707e5

FS
type: SiteQuality
SIO_000300: 1.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e0

VQSLOD
type: SiteQuality
SIO_000300: -2.321e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.73235e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 5.68e0

GenotypeQuality
all individuals: 3727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2949
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.135779241141424e-4
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12628
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 9.80711e5

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 152

GenotypeQuality
all individuals: 978
bin: 2.5e0
variant carriers: 20

GenotypeQuality
all individuals: 2597
bin: 4.25e1
variant carriers: 66

GenotypeQuality
all individuals: 2734
bin: 1.75e1
variant carriers: 68

GenotypeQuality
all individuals: 5951
bin: 3.75e1
variant carriers: 58

GenotypeQuality
all individuals: 6567
bin: 9.75e1
variant carriers: 4402

GenotypeQuality
all individuals: 4505
bin: 2.75e1
variant carriers: 37

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 91

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 158

GenotypeQuality
all individuals: 5495
bin: 6.25e1
variant carriers: 58

Other
type: Population
allele count: 44
allele frequency: 6.832298136645963e-2
allele num: 644
num of homozygotes: 1

South Asian
type: Population
allele count: 271
allele frequency: 2.140938536893664e-2
allele num: 12658
num of homozygotes: 7

African
type: Population
allele count: 97
allele frequency: 1.294714361986118e-2
allele num: 7492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 529
allele frequency: 1.432051976177585e-1
allele num: 3694
num of homozygotes: 28

Latino
type: Population
allele count: 160
allele frequency: 1.958384332925336e-2
allele num: 8170
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 3854
allele frequency: 7.889780543727481e-2
allele num: 48848
num of homozygotes: 135

DP
type: SiteQuality
SIO_000300: 9.85626e5

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.465e1

GenotypeQuality
all individuals: 3796
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8036
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.513547574039067e-4
allele num: 12696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 9.8467e5

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.576e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.444e0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1968
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12909
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variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.01946766832263e-5
allele num: 49518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.882e0

VQSLOD
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.107e0

DP
type: SiteQuality
SIO_000300: 9.87931e5

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

QD
type: SiteQuality
SIO_000300: 7.69e0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
all individuals: 584
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variant carriers: 0

GenotypeQuality
all individuals: 718
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variant carriers: 0

GenotypeQuality
all individuals: 811
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variant carriers: 0

GenotypeQuality
all individuals: 1016
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variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006581587607352e-5
allele num: 49836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 2.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

DP
type: SiteQuality
SIO_000300: 9.99002e5

GenotypeQuality
all individuals: 2176
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14130
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variant carriers: 0

GenotypeQuality
all individuals: 5942
bin: 3.75e1
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GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 581
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GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
all individuals: 718
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4846
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.003365654299223e-5
allele num: 49916
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 6.315e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.019267e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
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variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 2.75e1
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GenotypeQuality
all individuals: 731
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GenotypeQuality
all individuals: 7639
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14134
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GenotypeQuality
all individuals: 5781
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GenotypeQuality
all individuals: 1801
bin: 6.75e1
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GenotypeQuality
all individuals: 2378
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GenotypeQuality
all individuals: 2057
bin: 4.75e1
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GenotypeQuality
all individuals: 12533
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.998401278976819e-5
allele num: 50040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.584e1

VQSLOD
type: SiteQuality
SIO_000300: -1.268e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 1.024665e6

GenotypeQuality
all individuals: 796
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
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variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
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variant carriers: 0

GenotypeQuality
all individuals: 27740
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.230314960629921e-4
allele num: 8128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.859e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.785e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.200413e6

VQSLOD
type: SiteQuality
SIO_000300: -1.805e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 5.380972879896685e-4
allele num: 9292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.679040506235974e-5
allele num: 54362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.216181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 2.046e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2624
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.823553010686021e-5
allele num: 54838
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.636363636363636e-4
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 2.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 1.2283e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.078e1

GenotypeQuality
all individuals: 2697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.930832356389214e-4
allele num: 13648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.888e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.246556e6

QD
type: SiteQuality
SIO_000300: 1.288e1