19-55870230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870230
    reference: chr 19
allele count: 2
allele frequency: 1.106317070472397e-4
allele num: 18078
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.655G>A
  hgvsp: ENSP00000467419.1:p.Arg219Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.2006G>A
  hgvsp: ENSP00000398617.1:p.Arg669Gln
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1819G>A
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg219Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

19-55870231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870231
    reference: chr 19
allele count: 1
allele frequency: 5.506607929515419e-5
allele num: 18160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.654C>T
  hgvsp: ENSP00000467419.1:p.Arg219Trp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1818C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.2005C>T
  hgvsp: ENSP00000398617.1:p.Arg669Trp
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg219Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-55870241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870241
    reference: chr 19
allele count: 1
allele frequency: 5.452562704471101e-5
allele num: 18340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1808G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.644G>A
  hgvsp: ENST00000591954.3:c.644G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1995G>A
  hgvsp: ENST00000424985.3:c.1995G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu215Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-55870260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870260
    reference: chr 19
allele count: 262
allele frequency: 1.391544508179307e-2
allele num: 18828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1789C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.625C>T
  hgvsp: ENSP00000467419.1:p.Pro209Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1976C>T
  hgvsp: ENSP00000398617.1:p.Pro659Leu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Pro209Leu
num of homozygotes: 2
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

19-55870268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870268
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870268
    reference: chr 19
allele count: 2
allele frequency: 1.054852320675106e-4
allele num: 18960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1781G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1968G>A
  hgvsp: ENST00000424985.3:c.1968G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.617G>A
  hgvsp: ENST00000591954.3:c.617G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro206Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-55870289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870289
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870289
    reference: chr 19
allele count: 17310
allele frequency: 8.744190745605173e-1
allele num: 19796
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.596G>A
  hgvsp: ENST00000591954.3:c.596G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1760G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1947G>A
  hgvsp: ENST00000424985.3:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 1382
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 548
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 913
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 1197
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 1125
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 1379
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.25e1
  variant carriers: 712
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 650
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 362
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 7426
  bin: 9.75e1
  variant carriers: 7412
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 6.75e1
  variant carriers: 254
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 6.25e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 179
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 374
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 433
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 40
hgvs: p.Ala199Ala
num of homozygotes: 7577
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-55870292-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870292
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870292
    reference: chr 19
allele count: 1
allele frequency: 5.061241016297196e-5
allele num: 19758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1757G>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1944G>T
  hgvsp: ENSP00000398617.1:p.Trp648Cys
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.593G>T
  hgvsp: ENSP00000467419.1:p.Trp198Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Trp198Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-55870298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870298
    reference: chr 19
allele count: 28
allele frequency: 1.416860641635462e-3
allele num: 19762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.587C>T
  hgvsp: ENST00000591954.3:c.587C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1938C>T
  hgvsp: ENST00000424985.3:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1751C>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala196Ala
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/19-55870302-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870302
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870302
    reference: chr 19
allele count: 1
allele frequency: 5.061753391374772e-5
allele num: 19756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1934G>T
  hgvsp: ENSP00000398617.1:p.Trp645Leu
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.583G>T
  hgvsp: ENSP00000467419.1:p.Trp195Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1747G>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp195Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-55870309-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870309
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870309
    reference: chr 19
allele count: 1
allele frequency: 5.060728744939271e-5
allele num: 19760
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.576G>C
  hgvsp: ENSP00000467419.1:p.Glu193Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1740G>C
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1927G>C
  hgvsp: ENSP00000398617.1:p.Glu643Gln
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu193Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-55870316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870316
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870316
    reference: chr 19
allele count: 1
allele frequency: 5.061241016297196e-5
allele num: 19758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1733G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1920G>A
  hgvsp: ENST00000424985.3:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.569G>A
  hgvsp: ENST00000591954.3:c.569G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly190Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-55870319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870319
    reference: chr 19
allele count: 139
allele frequency: 7.032989273426432e-3
allele num: 19764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.566G>A
  hgvsp: ENST00000591954.3:c.566G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1917G>A
  hgvsp: ENST00000424985.3:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1730G>A
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 9.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Gln189Gln
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

19-55870328-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870328
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870327
    reference: chr 19
allele count: 1
allele frequency: 5.058680696074464e-5
allele num: 19768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1720delT
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1907delT
  hgvsp: ENSP00000398617.1:p.Phe636SerfsTer26
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.556delT
  hgvsp: ENSP00000467419.1:p.Phe186SerfsTer26
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe186SerfsTer26
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: GA
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-55870332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870332
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870332
    reference: chr 19
allele count: 27
allele frequency: 1.365567469148291e-3
allele num: 19772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1717C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.553C>T
  hgvsp: ENSP00000467419.1:p.Ala185Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1904C>T
  hgvsp: ENSP00000398617.1:p.Ala635Val
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Ala185Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-55870344-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870344
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870341
    reference: chr 19
allele count: 1
allele frequency: 5.058168942842691e-5
allele num: 19770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1889_1891delAGG
  hgvsp: ENSP00000398617.1:p.Glu630del
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.538_540delAGG
  hgvsp: ENSP00000467419.1:p.Glu180del
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1702_*1704delAGG
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu180del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: ACCT
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-55870351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870351
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870351
    reference: chr 19
allele count: 17348
allele frequency: 8.743951612903226e-1
allele num: 19840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1698A>G
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.534A>G
  hgvsp: ENSP00000467419.1:p.Lys179Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1885A>G
  hgvsp: ENSP00000398617.1:p.Lys629Glu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 654
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 584
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 575
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 640
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 1727
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.75e1
  variant carriers: 389
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 633
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 363
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 8904
  bin: 9.75e1
  variant carriers: 8888
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 6.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 139
hgvs: p.Lys179Glu
num of homozygotes: 7596
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/19-55870379-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870379
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870379
    reference: chr 19
allele count: 106
allele frequency: 5.36871961102107e-3
allele num: 19744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.506G>T
  hgvsp: ENSP00000467419.1:p.Glu169Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1670G>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1857G>T
  hgvsp: ENSP00000398617.1:p.Glu619Asp
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 9.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu169Asp
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-55870387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870387
    reference: chr 19
allele count: 1
allele frequency: 5.072022722661798e-5
allele num: 19716
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.498A>G
  hgvsp: ENSP00000467419.1:p.Lys167Glu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1662A>G
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1849A>G
  hgvsp: ENSP00000398617.1:p.Lys617Glu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys167Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-55870394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870394
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870394
    reference: chr 19
allele count: 1
allele frequency: 5.078204346942921e-5
allele num: 19692
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1842C>T
  hgvsp: ENST00000424985.3:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.491C>T
  hgvsp: ENST00000591954.3:c.491C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1655C>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr164Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-55870404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870404
    reference: chr 19
allele count: 24
allele frequency: 1.221374045801527e-3
allele num: 19650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.481C>T
  hgvsp: ENSP00000467419.1:p.Ser161Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1645C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1832C>T
  hgvsp: ENSP00000398617.1:p.Ser611Leu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 9.75e1
  variant carriers: 24
hgvs: p.Ser161Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-55870405-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870405
    reference: chr 19
allele count: 3
allele frequency: 1.526406838302635e-4
allele num: 19654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.480T>G
  hgvsp: ENSP00000467419.1:p.Ser161Ala
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1644T>G
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1831T>G
  hgvsp: ENSP00000398617.1:p.Ser611Ala
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser161Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

19-55870427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870427
    reference: chr 19
allele count: 6
allele frequency: 3.073140749846343e-4
allele num: 19524
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.458G>A
  hgvsp: ENST00000591954.3:c.458G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1622G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1809G>A
  hgvsp: ENST00000424985.3:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr153Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-55870428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870428
    reference: chr 19
allele count: 1
allele frequency: 5.12610211195407e-5
allele num: 19508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.457C>T
  hgvsp: ENSP00000467419.1:p.Thr153Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1621C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1808C>T
  hgvsp: ENSP00000398617.1:p.Thr603Met
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr153Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-55870444-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870444
    reference: chr 19
allele count: 1
allele frequency: 5.156765676567657e-5
allele num: 19392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1792G>T
  hgvsp: ENSP00000398617.1:p.Asp598Tyr
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1605G>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.441G>T
  hgvsp: ENSP00000467419.1:p.Asp148Tyr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp148Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-55870455-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870455
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870455
    reference: chr 19
allele count: 1
allele frequency: 5.193725979017347e-5
allele num: 19254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1781C>A
  hgvsp: ENSP00000398617.1:p.Thr594Asn
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1594C>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.430C>A
  hgvsp: ENSP00000467419.1:p.Thr144Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr144Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-55870458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870458
    reference: chr 19
allele count: 1
allele frequency: 5.207248489897938e-5
allele num: 19204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1778G>A
  hgvsp: ENSP00000398617.1:p.Arg593His
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.427G>A
  hgvsp: ENSP00000467419.1:p.Arg143His
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1591G>A
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg143His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-55870459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870459
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870459
    reference: chr 19
allele count: 1
allele frequency: 5.205080158234437e-5
allele num: 19212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1777C>T
  hgvsp: ENSP00000398617.1:p.Arg593Cys
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1590C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.426C>T
  hgvsp: ENSP00000467419.1:p.Arg143Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg143Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-55870463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870463
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870463
    reference: chr 19
allele count: 56
allele frequency: 2.935010482180294e-3
allele num: 19080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1773G>A
  hgvsp: ENST00000424985.3:c.1773G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.422G>A
  hgvsp: ENST00000591954.3:c.422G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1586G>A
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr141Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-55870464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870464
    reference: chr 19
allele count: 6
allele frequency: 3.147293327738145e-4
allele num: 19064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1585C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1772C>T
  hgvsp: ENSP00000398617.1:p.Thr591Met
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.421C>T
  hgvsp: ENSP00000467419.1:p.Thr141Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr141Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-55870472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870472
    reference: chr 19
allele count: 3
allele frequency: 1.584283903675539e-4
allele num: 18936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1577G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.413G>A
  hgvsp: ENST00000591954.3:c.413G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1764G>A
  hgvsp: ENST00000424985.3:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Pro138Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-55870473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870473
    reference: chr 19
allele count: 9
allele frequency: 4.754860524091293e-4
allele num: 18928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.412C>T
  hgvsp: ENSP00000467419.1:p.Pro138Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1576C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1763C>T
  hgvsp: ENSP00000398617.1:p.Pro588Leu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro138Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

19-55870478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870478
    reference: chr 19
allele count: 1063
allele frequency: 5.633877464490142e-2
allele num: 18868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1571G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1758G>A
  hgvsp: ENST00000424985.3:c.1758G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.407G>A
  hgvsp: ENST00000591954.3:c.407G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 9.75e1
  variant carriers: 990
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 6
hgvs: p.Pro136Pro
num of homozygotes: 42
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-55870487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870487
    reference: chr 19
allele count: 80
allele frequency: 4.294149221685454e-3
allele num: 18630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1562A>G
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1749A>G
  hgvsp: ENST00000424985.3:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.398A>G
  hgvsp: ENST00000591954.3:c.398A>G(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 9.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly133Gly
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-55870488-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870488
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870488
    reference: chr 19
allele count: 1
allele frequency: 5.369992482010525e-5
allele num: 18622
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1748G>C
  hgvsp: ENSP00000398617.1:p.Gly583Ala
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.397G>C
  hgvsp: ENSP00000467419.1:p.Gly133Ala
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1561G>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly133Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-55870533-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870533
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870533
    reference: chr 19
allele count: 1
allele frequency: 5.564830272676683e-5
allele num: 17970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1516C>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1703C>A
  hgvsp: ENSP00000398617.1:p.Pro568Gln
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.352C>A
  hgvsp: ENSP00000467419.1:p.Pro118Gln
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro118Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-55870540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870540
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870540
    reference: chr 19
allele count: 1
allele frequency: 5.560498220640569e-5
allele num: 17984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.345G>A
  hgvsp: ENSP00000467419.1:p.Val116Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1509G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1696G>A
  hgvsp: ENSP00000398617.1:p.Val566Met
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val116Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

19-55870541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870541
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870541
    reference: chr 19
allele count: 1
allele frequency: 5.558025789239662e-5
allele num: 17992
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.344C>T
  hgvsp: ENST00000591954.3:c.344C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1695C>T
  hgvsp: ENST00000424985.3:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1508C>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp115Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-55870549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870549
    reference: chr 19
allele count: 1
allele frequency: 5.569169079973268e-5
allele num: 17956
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1687G>A
  hgvsp: ENSP00000398617.1:p.Asp563Asn
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1500G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.336G>A
  hgvsp: ENSP00000467419.1:p.Asp113Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp113Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-55870550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870550
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870550
    reference: chr 19
allele count: 1
allele frequency: 5.567308762943993e-5
allele num: 17962
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1686C>T
  hgvsp: ENST00000424985.3:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.335C>T
  hgvsp: ENST00000591954.3:c.335C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1499C>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly112Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-55870558-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870558
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870558
    reference: chr 19
allele count: 6
allele frequency: 3.345600535296086e-4
allele num: 17934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1678C>A
  hgvsp: ENSP00000398617.1:p.Leu560Ile
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1491C>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.327C>A
  hgvsp: ENSP00000467419.1:p.Leu110Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu110Ile
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-55870566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870566
    reference: chr 19
allele count: 16
allele frequency: 8.992805755395684e-4
allele num: 17792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1483G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.319G>A
  hgvsp: ENSP00000467419.1:p.Arg107Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1670G>A
  hgvsp: ENSP00000398617.1:p.Arg557Gln
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg107Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-55870578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870578
    reference: chr 19
allele count: 1
allele frequency: 5.659309564233164e-5
allele num: 17670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1471C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1658C>T
  hgvsp: ENSP00000398617.1:p.Pro553Leu
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.307C>T
  hgvsp: ENSP00000467419.1:p.Pro103Leu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro103Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-55870580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870580
    reference: chr 19
allele count: 1
allele frequency: 5.649717514124294e-5
allele num: 17700
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1656C>G
  hgvsp: ENSP00000398617.1:p.Ser552Arg
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.305C>G
  hgvsp: ENSP00000467419.1:p.Ser102Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1469C>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser102Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

19-55870600-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870600
    reference: chr 19
allele count: 18365
allele frequency: 9.68209616195698e-1
allele num: 18968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1636G>C
  hgvsp: ENSP00000398617.1:p.Glu546Gln
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.285G>C
  hgvsp: ENSP00000467419.1:p.Glu96Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1449G>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 648
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 562
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 866
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 821
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.25e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 924
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 691
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 874
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 545
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.25e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 629
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 245
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7441
  bin: 9.75e1
  variant carriers: 7441
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 354
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 6.75e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 200
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 262
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 104
hgvs: p.Glu96Gln
num of homozygotes: 8898
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-55870604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870604
    reference: chr 19
allele count: 130
allele frequency: 7.042253521126761e-3
allele num: 18460
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.281T>C
  hgvsp: ENST00000591954.3:c.281T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1632T>C
  hgvsp: ENST00000424985.3:c.1632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1445T>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Pro94Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-55870651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870651
    reference: chr 19
allele count: 1
allele frequency: 5.570409982174688e-5
allele num: 17952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.234T>C
  hgvsp: ENSP00000467419.1:p.Ser79Pro
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1585T>C
  hgvsp: ENSP00000398617.1:p.Ser529Pro
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1398T>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser79Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-55870692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870692
    reference: chr 19
allele count: 2
allele frequency: 1.164686699277894e-4
allele num: 17172
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.193T>C
  hgvsp: ENSP00000467419.1:p.Ile65Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1544T>C
  hgvsp: ENSP00000398617.1:p.Ile515Thr
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1357T>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile65Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-55870726-GTGGGGTCTTCTGGGGTGGGGCAGGTACGGCTGAGGCCTTTCGGGGAGAAGCTGACGCAGCTGAGGCCTTCCGGGATGGAGCAGGTATGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870726
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870636
    reference: chr 19
allele count: 1
allele frequency: 6.668444918644971e-5
allele num: 14996
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsp: ENSP00000467419.1:p.Ala24_Pro53del
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Ala474_Pro503del
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala24_Pro53del
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: GTGGGGTCTTCTGGGGTGGGGCAGGTACGGCTGAGGCCTTTCGGGGAGAAGCTGACGCAGCTGAGGCCTTCCGGGATGGAGCAGGTATGGC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-55870740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870740
    reference: chr 19
allele count: 2
allele frequency: 1.344447432105405e-4
allele num: 14876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.145C>T
  hgvsp: ENSP00000467419.1:p.Pro49Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1496C>T
  hgvsp: ENSP00000398617.1:p.Pro499Leu
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1309C>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro49Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-55870741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870741
    reference: chr 19
allele count: 3
allele frequency: 2.017756255044391e-4
allele num: 14868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1308C>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.144C>A
  hgvsp: ENSP00000467419.1:p.Pro49Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1495C>A
  hgvsp: ENSP00000398617.1:p.Pro499Thr
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro49Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-55870752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870752
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870752
    reference: chr 19
allele count: 4
allele frequency: 2.643055372010044e-4
allele num: 15134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1484T>G
  hgvsp: ENSP00000398617.1:p.Val495Gly
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.133T>G
  hgvsp: ENSP00000467419.1:p.Val45Gly
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1297T>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Val45Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-55870753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870753
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870753
    reference: chr 19
allele count: 6
allele frequency: 3.963535473642489e-4
allele num: 15138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1483G>A
  hgvsp: ENSP00000398617.1:p.Val495Ile
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1296G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.132G>A
  hgvsp: ENSP00000467419.1:p.Val45Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val45Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-55870754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870754
    reference: chr 19
allele count: 2
allele frequency: 1.314233144959916e-4
allele num: 15218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.131C>T
  hgvsp: ENST00000591954.3:c.131C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1295C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1482C>T
  hgvsp: ENST00000424985.3:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-55870792-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870792
    reference: chr 19
allele count: 35
allele frequency: 2.082837419661985e-3
allele num: 16804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1444G>T
  hgvsp: ENSP00000398617.1:p.Ala482Ser
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.93G>T
  hgvsp: ENSP00000467419.1:p.Ala32Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1257G>T
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala32Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-55870792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870792
    reference: chr 19
allele count: 8
allele frequency: 4.760771244941681e-4
allele num: 16804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.93G>A
  hgvsp: ENSP00000467419.1:p.Ala32Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1444G>A
  hgvsp: ENSP00000398617.1:p.Ala482Thr
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1257G>A
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala32Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-55870797-C-CGGGATGGAGCAGGTATGGCTGGGGCCTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870797
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870827
    reference: chr 19
allele count: 6
allele frequency: 3.546099290780142e-4
allele num: 16920
alternate allele: CGGGATGGAGCAGGTATGGCTGGGGCCTTCT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Gln470_Ser479dup
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsp: ENSP00000467419.1:p.Gln20_Ser29dup
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln20_Ser29dup
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-55870797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870797
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870797
    reference: chr 19
allele count: 26
allele frequency: 1.536643026004728e-3
allele num: 16920
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.88G>A
  hgvsp: ENSP00000467419.1:p.Arg30Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1252G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1439G>A
  hgvsp: ENSP00000398617.1:p.Arg480Gln
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg30Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-55870804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870804
    reference: chr 19
allele count: 14
allele frequency: 8.144269924374636e-4
allele num: 17190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1245C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1432C>T
  hgvsp: ENSP00000398617.1:p.Pro478Ser
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.81C>T
  hgvsp: ENSP00000467419.1:p.Pro28Ser
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro28Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-55870808-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870808
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870808
    reference: chr 19
allele count: 1
allele frequency: 5.797773654916512e-5
allele num: 17248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1428T>G
  hgvsp: ENST00000424985.3:c.1428T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.77T>G
  hgvsp: ENST00000591954.3:c.77T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1241T>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro26Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-55870813-TGGCTGGGGCCTTCTGGGATGGAGCAGGTAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870813
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870783
    reference: chr 19
allele count: 35
allele frequency: 2.046304957904584e-3
allele num: 17104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Val465_Ala474del
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsp: ENSP00000467419.1:p.Val15_Ala24del
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val15_Ala24del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: TGGCTGGGGCCTTCTGGGATGGAGCAGGTAC
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-55870816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870816
    reference: chr 19
allele count: 3
allele frequency: 1.780204130073582e-4
allele num: 16852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1233G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.69G>A
  hgvsp: ENSP00000467419.1:p.Ala24Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1420G>A
  hgvsp: ENSP00000398617.1:p.Ala474Thr
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala24Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

19-55870822-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870822
    reference: chr 19
allele count: 7
allele frequency: 4.267772222899646e-4
allele num: 16402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.63G>C
  hgvsp: ENSP00000467419.1:p.Ala22Pro
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1414G>C
  hgvsp: ENSP00000398617.1:p.Ala472Pro
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1227G>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala22Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-55870826-C-CTGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870831
    reference: chr 19
allele count: 1
allele frequency: 5.819366852886406e-5
allele num: 17184
alternate allele: CTGGGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1218_*1222dupTCCCA
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.54_58dupTCCCA
  hgvsp: ENSP00000467419.1:p.Gln20HisfsTer84
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1405_1409dupTCCCA
  hgvsp: ENSP00000398617.1:p.Gln470HisfsTer84
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln20HisfsTer84
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-55870835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870835
    reference: chr 19
allele count: 826
allele frequency: 4.756420591961304e-2
allele num: 17366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1401T>G
  hgvsp: ENST00000424985.3:c.1401T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.50T>G
  hgvsp: ENST00000591954.3:c.50T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1214T>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 782
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 5
hgvs: p.Ala17Ala
num of homozygotes: 31
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-55870839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870839
    reference: chr 19
allele count: 1
allele frequency: 5.708414202534536e-5
allele num: 17518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1210C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.46C>T
  hgvsp: ENSP00000467419.1:p.Pro16Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1397C>T
  hgvsp: ENSP00000398617.1:p.Pro466Leu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro16Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

19-55870843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870843
    reference: chr 19
allele count: 21
allele frequency: 1.211072664359861e-3
allele num: 17340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1206G>A
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1393G>A
  hgvsp: ENSP00000398617.1:p.Val465Ile
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.42G>A
  hgvsp: ENSP00000467419.1:p.Val15Ile
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val15Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

19-55870844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870844
    reference: chr 19
allele count: 13
allele frequency: 7.393084622383985e-4
allele num: 17584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1205C>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.41C>T
  hgvsp: ENST00000591954.3:c.41C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1392C>T
  hgvsp: ENST00000424985.3:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala14Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-55870844-G-GGCTGGGGCCTTCTGGGATGGAGCAGGTACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870874
    reference: chr 19
allele count: 1
allele frequency: 5.686988171064604e-5
allele num: 17584
alternate allele: GGCTGGGGCCTTCTGGGATGGAGCAGGTACA
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsp: ENSP00000467419.1:p.Val5_Ala14dup
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Val455_Ala464dup
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val5_Ala14dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

19-55870844-GGCTGGGGCCTTCTGGGATGGAGCAGGTACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870814
    reference: chr 19
allele count: 33
allele frequency: 1.876706096451319e-3
allele num: 17584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Val465_Ala474del
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsp: ENSP00000467419.1:p.Val15_Ala24del
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Val15_Ala24del
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: GGCTGGGGCCTTCTGGGATGGAGCAGGTACA
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-55870846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870846
    reference: chr 19
allele count: 1
allele frequency: 5.690871841566128e-5
allele num: 17572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1203G>T
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.39G>T
  hgvsp: ENSP00000467419.1:p.Ala14Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1390G>T
  hgvsp: ENSP00000398617.1:p.Ala464Ser
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala14Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-55870861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870861
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870861
    reference: chr 19
allele count: 1
allele frequency: 5.55247084952804e-5
allele num: 18010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1188T>C
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1375T>C
  hgvsp: ENSP00000398617.1:p.Ser459Pro
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.24T>C
  hgvsp: ENSP00000467419.1:p.Ser9Pro
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser9Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-55870872-ACAGCTGGGGCCTTCCGGGGAGGAGCTGACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870842
    reference: chr 19
allele count: 1
allele frequency: 5.426524853483829e-5
allele num: 18428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsp: ENSP00000398617.1:p.Ala445_Ala454del
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala445_Ala454del
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: ACAGCTGGGGCCTTCCGGGGAGGAGCTGACG
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

19-55870874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870874
    reference: chr 19
allele count: 50
allele frequency: 2.717686705076639e-3
allele num: 18398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.11T>C
  hgvsp: ENST00000591954.3:c.11T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1362T>C
  hgvsp: ENST00000424985.3:c.1362T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1175T>C
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-55870875-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870875
    reference: chr 19
allele count: 1
allele frequency: 5.386770092652445e-5
allele num: 18564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.10C>G
  hgvsp: ENSP00000467419.1:p.Ala4Gly
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1361C>G
  hgvsp: ENSP00000398617.1:p.Ala454Gly
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1174C>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala4Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-55870879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870879
    reference: chr 19
allele count: 2
allele frequency: 1.06951871657754e-4
allele num: 18700
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000267706
  ensembl protein: ENSP00000467419
  ensembl transcript: ENST00000591954
  gene symbol: CTD-2105E13.6
  hgvsc: ENST00000591954.3:c.6C>G
  hgvsp: ENSP00000467419.1:p.Pro3Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1357C>G
  hgvsp: ENSP00000398617.1:p.Pro453Ala
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1170C>G
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro3Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-55870885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55870885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55870885
    reference: chr 19
allele count: 1
allele frequency: 5.324813631522896e-5
allele num: 18780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000466418
  ensembl transcript: ENST00000585734
  gene symbol: FAM71E2
  hgvsc: ENST00000585734.1:c.*1164A>G
  variant of: http://identifiers.org/hgnc/25278
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180043
  ensembl protein: ENSP00000398617
  ensembl transcript: ENST00000424985
  gene symbol: FAM71E2
  hgvsc: ENST00000424985.3:c.1351A>G
  hgvsp: ENSP00000398617.1:p.Lys451Glu
  variant of: http://identifiers.org/hgnc/25278
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys451Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.265502404454569e-4
  allele num: 7902
  num of homozygotes: 0
population: European (Non-Finnish)
reference allele: T

GenotypeQuality
all individuals: 678
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.380863039399625e-4
allele num: 2132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 2.64517e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

FS
type: SiteQuality
SIO_000300: 5.404e0

GenotypeQuality
all individuals: 2455
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.690431519699812e-4
allele num: 2132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6812
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.592e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 2.65192e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 3.916e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
all individuals: 803
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.247816321437484e-4
allele num: 8014
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.7106e5

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

QD
type: SiteQuality
SIO_000300: 7.29e0

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

FS
type: SiteQuality
SIO_000300: 6.989e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.887e1

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 27
allele frequency: 3.687517071838296e-3
allele num: 7322
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.617977528089887e-3
allele num: 178
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 6.554307116104869e-3
allele num: 2136
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.492537313432836e-2
allele num: 402
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 214
allele frequency: 2.63093189082862e-2
allele num: 8134
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.87547e5

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2134
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.692514808831449e-4
allele num: 7428
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 2.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

DP
type: SiteQuality
SIO_000300: 2.93597e5

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 103

European (Non-Finnish)
type: Population
allele count: 7349
allele frequency: 8.664230134402263e-1
allele num: 8482
num of homozygotes: 3178

African
type: Population
allele count: 1815
allele frequency: 8.418367346938775e-1
allele num: 2156
num of homozygotes: 761

Other
type: Population
allele count: 171
allele frequency: 9.0e-1
allele num: 190
num of homozygotes: 76

East Asian
type: Population
allele count: 561
allele frequency: 9.019292604501608e-1
allele num: 622
num of homozygotes: 254

South Asian
type: Population
allele count: 7047
allele frequency: 8.920253164556962e-1
allele num: 7900
num of homozygotes: 3156

European (Finnish)
type: Population
allele count: 32
allele frequency: 8.421052631578947e-1
allele num: 38
num of homozygotes: 14

Latino
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allele count: 335
allele frequency: 8.21078431372549e-1
allele num: 408
num of homozygotes: 138

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.131e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

DP
type: SiteQuality
SIO_000300: 4.26858e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.128e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 2.919e1

GenotypeQuality
all individuals: 739
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.659832246039142e-4
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.562e1

DP
type: SiteQuality
SIO_000300: 3.99309e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.638e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 3.541613964077915e-3
allele num: 7906
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.196e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 1.528e0

DP
type: SiteQuality
SIO_000300: 4.00108e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.182872013248167e-4
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

DP
type: SiteQuality
SIO_000300: 4.0074e5

FS
type: SiteQuality
SIO_000300: 3.876e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.947e0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.264862130027827e-4
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 4.01318e5

FS
type: SiteQuality
SIO_000300: 8.289999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.428e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.752e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

DP
type: SiteQuality
SIO_000300: 4.01595e5

GenotypeQuality
all individuals: 704
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 7.352941176470588e-3
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.052631578947368e-2
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264222503160556e-4
allele num: 7910
num of homozygotes: 0

African
type: Population
allele count: 133
allele frequency: 6.191806331471136e-2
allele num: 2148
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 4.02937e5

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

DP
type: SiteQuality
SIO_000300: 4.0272e5

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 4.681e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.921e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 1351
bin: 6.25e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 1.210428305400372e-2
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 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: 190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 4.02844e5

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
all individuals: 744
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.263157894736842e-3
allele num: 190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.74e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 4.0289e5

FS
type: SiteQuality
SIO_000300: 2.597e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 36

South Asian
type: Population
allele count: 7057
allele frequency: 8.917108920899671e-1
allele num: 7914
num of homozygotes: 3161

Other
type: Population
allele count: 173
allele frequency: 9.010416666666666e-1
allele num: 192
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East Asian
type: Population
allele count: 557
allele frequency: 9.01294498381877e-1
allele num: 618
num of homozygotes: 252

Latino
type: Population
allele count: 335
allele frequency: 8.21078431372549e-1
allele num: 408
num of homozygotes: 138

African
type: Population
allele count: 1811
allele frequency: 8.423255813953489e-1
allele num: 2150
num of homozygotes: 760

European (Finnish)
type: Population
allele count: 33
allele frequency: 8.25e-1
allele num: 40
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 7382
allele frequency: 8.666353604132425e-1
allele num: 8518
num of homozygotes: 3194

QD
type: SiteQuality
SIO_000300: 2.864e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 6.74366e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.314e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 104
allele frequency: 4.85981308411215e-2
allele num: 2140
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.367424242424242e-4
allele num: 8448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

DP
type: SiteQuality
SIO_000300: 4.55068e5

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
all individuals: 400
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.628664495114007e-3
allele num: 614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

DP
type: SiteQuality
SIO_000300: 4.52514e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 1.624e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 2.145e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 4.51827e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 20
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South Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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FS
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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Latino
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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South Asian
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allele frequency: 1.263902932254803e-4
allele num: 7912
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Latino
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East Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 400
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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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QD
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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allele frequency: 6.951466127401416e-3
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East Asian
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Latino
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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African
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Latino
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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African
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South Asian
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East Asian
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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FS
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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QD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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Latino
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South Asian
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East Asian
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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Other
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Latino
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East Asian
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

QD
type: SiteQuality
SIO_000300: 1.451e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

DP
type: SiteQuality
SIO_000300: 4.29282e5

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 4.25175e5

VQSLOD
type: SiteQuality
SIO_000300: -1.871e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 5.995203836930455e-4
allele num: 1668
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.20165e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.021e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.390820584144645e-4
allele num: 7190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 4.20375e5

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

FS
type: SiteQuality
SIO_000300: 1.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.388888888888889e-4
allele num: 7200
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 4.20753e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.184e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

GenotypeQuality
all individuals: 5071
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.512562814070352e-3
allele num: 398
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: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.768e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 4.20717e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

GenotypeQuality
all individuals: 5070
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.03e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.82e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 3.798e0

DP
type: SiteQuality
SIO_000300: 4.2111e5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.512562814070352e-3
allele num: 398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.566379070414695e-4
allele num: 7186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.21505e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

FS
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.672240802675585e-3
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 5.025125628140704e-3
allele num: 398
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.137512639029323e-3
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.621135469364812e-4
allele num: 7116
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.21371e5

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 1.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.418439716312057e-4
allele num: 7050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.489e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 4.18243e5

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 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: 178
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
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African
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allele count: 1
allele frequency: 6.561679790026247e-4
allele num: 1524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

QD
type: SiteQuality
SIO_000300: 3.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.689e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

FS
type: SiteQuality
SIO_000300: 2.977e0

DP
type: SiteQuality
SIO_000300: 4.17948e5

MQ
type: SiteQuality
SIO_000300: 4.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 179

Latino
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allele count: 368
allele frequency: 9.064039408866995e-1
allele num: 406
num of homozygotes: 167

East Asian
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allele count: 553
allele frequency: 9.155629139072847e-1
allele num: 604
num of homozygotes: 253

African
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allele count: 1789
allele frequency: 9.455602536997886e-1
allele num: 1892
num of homozygotes: 844

European (Non-Finnish)
type: Population
allele count: 7808
allele frequency: 9.838709677419355e-1
allele num: 7936
num of homozygotes: 3842

European (Finnish)
type: Population
allele count: 36
allele frequency: 1.0e0
allele num: 36
num of homozygotes: 18

South Asian
type: Population
allele count: 7635
allele frequency: 9.64746019711903e-1
allele num: 7914
num of homozygotes: 3688

Other
type: Population
allele count: 176
allele frequency: 9.777777777777777e-1
allele num: 180
num of homozygotes: 86

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.121e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 3.445e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 4.7825e5

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

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

Other
type: Population
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allele frequency: 5.555555555555556e-3
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 1.25e-2
allele num: 400
num of homozygotes: 0

African
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allele count: 8
allele frequency: 4.449388209121246e-3
allele num: 1798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 51
allele frequency: 6.762132060461416e-3
allele num: 7542
num of homozygotes: 0

South Asian
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allele count: 65
allele frequency: 8.215369059656218e-3
allele num: 7912
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 2.96584e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 2.88199e5

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

South Asian
type: Population
allele count: 2
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allele num: 7870
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European (Non-Finnish)
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African
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Other
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East Asian
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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Other
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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QD
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FS
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DP
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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Latino
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African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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South Asian
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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Other
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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East Asian
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African
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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East Asian
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FS
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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East Asian
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ClippingRankSum
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VQSLOD
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DP
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QD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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Other
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South Asian
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ClippingRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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SIO_000300: -2.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.560656734569778e-4
allele num: 6578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -1.234e0

FS
type: SiteQuality
SIO_000300: 9.547000000000001e0

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 2.79548e5

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.674298613350532e-4
allele num: 6202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 1.26708e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.326e0

DP
type: SiteQuality
SIO_000300: 2.77761e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: -7.743000000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e0

QD
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.268713524486171e-4
allele num: 7882
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.066000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

FS
type: SiteQuality
SIO_000300: 3.386e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.051e1

DP
type: SiteQuality
SIO_000300: 2.77138e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.481e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 6

Other
type: Population
allele count: 11
allele frequency: 6.470588235294118e-2
allele num: 170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.308139534883721e-2
allele num: 1376
num of homozygotes: 0

South Asian
type: Population
allele count: 244
allele frequency: 3.094875697615423e-2
allele num: 7884
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 520
allele frequency: 7.510109763142692e-2
allele num: 6924
num of homozygotes: 19

Latino
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allele count: 33
allele frequency: 8.418367346938775e-2
allele num: 392
num of homozygotes: 4

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 1.792e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 3.02239e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7032
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.092198581560284e-4
allele num: 1410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.175e0

DP
type: SiteQuality
SIO_000300: 2.79521e5

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

FS
type: SiteQuality
SIO_000300: 3.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
all individuals: 888
bin: 9.75e1
variant carriers: 19

South Asian
type: Population
allele count: 2
allele frequency: 2.542588354945334e-4
allele num: 7866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6990
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.470588235294118e-2
allele num: 1292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

QD
type: SiteQuality
SIO_000300: 4.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.867e0

FS
type: SiteQuality
SIO_000300: 2.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.81865e5

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.275148767356192e-3
allele num: 7058
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.534854245880862e-4
allele num: 7890
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.10204081632653e-3
allele num: 392
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

FS
type: SiteQuality
SIO_000300: 1.125e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.04e-2

DP
type: SiteQuality
SIO_000300: 2.83319e5

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.416831963729102e-4
allele num: 7058
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.125e0

DP
type: SiteQuality
SIO_000300: 2.83319e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 1.043115438108484e-2
allele num: 1438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.667327854916407e-4
allele num: 7058
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.694915254237288e-3
allele num: 590
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 1.64765525982256e-3
allele num: 7890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 2.83319e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.694915254237288e-3
allele num: 590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1454
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.01e0

DP
type: SiteQuality
SIO_000300: 2.81838e5

MQRankSum
type: SiteQuality
SIO_000300: -1.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

FS
type: SiteQuality
SIO_000300: 2.276e0

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

African
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allele count: 1
allele frequency: 6.305170239596469e-4
allele num: 1586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 590
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.883e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.779e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.86304e5

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 5.847953216374269e-4
allele num: 1710
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 402
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DP
type: SiteQuality
SIO_000300: 2.91343e5

FS
type: SiteQuality
SIO_000300: 1.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.641e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 600
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 402
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African
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allele count: 50
allele frequency: 2.969121140142518e-2
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.862e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.301405517959396e-4
allele num: 7684
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.93495e5

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.577984016499098e-4
allele num: 7758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4181e1

VQSLOD
type: SiteQuality
SIO_000300: -2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.029e0

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 2.94038e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0