4-2698349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698349
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698349
    reference: chr 4
allele count: 1
allele frequency: 9.588647041902388e-6
allele num: 104290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+29C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+29C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

4-2698350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698350
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698350
    reference: chr 4
allele count: 5
allele frequency: 4.851166220359374e-5
allele num: 103068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+30G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+30G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19504
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-2698351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698351
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698351
    reference: chr 4
allele count: 1
allele frequency: 9.664076694112645e-6
allele num: 103476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+31C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+31C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

4-2698360-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698360
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698359
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 98430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+43delG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+43delG
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: AG
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-2698363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698363
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698363
    reference: chr 4
allele count: 2
allele frequency: 2.068295104345488e-5
allele num: 96698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+43G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18144
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-2698364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698364
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698364
    reference: chr 4
allele count: 41678
allele frequency: 4.376194376194376e-1
allele num: 95238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+44C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+44C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 1402
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 1.75e1
  variant carriers: 9868
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.5e0
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 2950
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 1.25e1
  variant carriers: 11399
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.25e1
  variant carriers: 5714
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 7.5e0
  variant carriers: 5288
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.5e0
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 1454
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 1171
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 534
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 6.25e1
  variant carriers: 967
num of homozygotes: 9156
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

4-2698368-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698368
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698368
    reference: chr 4
allele count: 1
allele frequency: 1.106096805592425e-5
allele num: 90408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+48T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+48T>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19389
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-2698371-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2698371
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2698371
    reference: chr 4
allele count: 2
allele frequency: 2.28201090801214e-5
allele num: 87642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.320+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2196+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2634+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2634+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2700+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*208+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2634+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*232+51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2634+51A>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

4-2701356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701356
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701356
    reference: chr 4
allele count: 1
allele frequency: 9.097194425239256e-6
allele num: 109924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-51A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-51A>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

4-2701358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701358
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701358
    reference: chr 4
allele count: 1
allele frequency: 9.098022089997635e-6
allele num: 109914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-49T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-49T>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-2701364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701364
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701364
    reference: chr 4
allele count: 1
allele frequency: 9.096697898662786e-6
allele num: 109930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-43G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-43G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18329
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/4-2701369-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701369
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701369
    reference: chr 4
allele count: 1
allele frequency: 9.07589261403859e-6
allele num: 110182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-38C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-38C>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

4-2701369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701369
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701369
    reference: chr 4
allele count: 1
allele frequency: 9.07589261403859e-6
allele num: 110182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-38C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-38C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

4-2701371-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701371
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701371
    reference: chr 4
allele count: 6
allele frequency: 5.436456879836181e-5
allele num: 110366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-36C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-36C>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

4-2701372-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701372
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701372
    reference: chr 4
allele count: 1
allele frequency: 9.051412020275162e-6
allele num: 110480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-35T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-35T>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8896
  bin: 6.75e1
  variant carriers: 0
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: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-2701375-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701375
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701376
    reference: chr 4
allele count: 227
allele frequency: 2.051365468380054e-3
allele num: 110658
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-31dupG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-31dupG
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 16145
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 3
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

4-2701377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701377
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701377
    reference: chr 4
allele count: 1
allele frequency: 9.027715085311908e-6
allele num: 110770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-30T>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-30T>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-2701379-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701379
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701379
    reference: chr 4
allele count: 1
allele frequency: 9.017132551848512e-6
allele num: 110900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-28T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-28T>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16285
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

4-2701386-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701386
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701386
    reference: chr 4
allele count: 1
allele frequency: 8.970862638151285e-6
allele num: 111472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-21G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-21G>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

4-2701391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701391
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701391
    reference: chr 4
allele count: 1
allele frequency: 8.924427944168779e-6
allele num: 112052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-16C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-16C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-2701399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701399
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701399
    reference: chr 4
allele count: 6
allele frequency: 5.295207836907599e-5
allele num: 113310
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-8A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-8A>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2635-8A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-2701399-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701399
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701399
    reference: chr 4
allele count: 1
allele frequency: 8.825346394845998e-6
allele num: 113310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*233-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.321-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2635-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2635-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*209-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2701-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2197-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2635-8A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2635-8A>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23199
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2635-8A>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-2701409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701409
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701409
    reference: chr 4
allele count: 1
allele frequency: 8.69187309865276e-6
allele num: 115050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.323G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2637G>A
  hgvsp: ENST00000505311.1:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2199G>A
  hgvsp: ENST00000513350.1:c.2199G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2703G>A
  hgvsp: ENST00000502458.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2637G>A
  hgvsp: ENST00000382839.3:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2637G>A
  hgvsp: ENST00000324666.5:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2637G>A
  hgvsp: ENST00000545951.1:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*235G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2637G>A
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: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-2701429-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701429
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701429
    reference: chr 4
allele count: 4
allele frequency: 3.423485107839781e-5
allele num: 116840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2657A>C
  hgvsp: ENSP00000421200.1:p.Glu886Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*231A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2723A>C
  hgvsp: ENSP00000427505.1:p.Glu908Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2657A>C
  hgvsp: ENSP00000443617.1:p.Glu886Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2219A>C
  hgvsp: ENSP00000427260.1:p.Glu740Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.343A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2657A>C
  hgvsp: ENSP00000372290.3:p.Glu886Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2657A>C
  hgvsp: ENSP00000324587.5:p.Glu886Ala
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*255A>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu886Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

4-2701429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701429
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701429
    reference: chr 4
allele count: 1
allele frequency: 8.558712769599453e-6
allele num: 116840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*231A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2219A>G
  hgvsp: ENSP00000427260.1:p.Glu740Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2723A>G
  hgvsp: ENSP00000427505.1:p.Glu908Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2657A>G
  hgvsp: ENSP00000324587.5:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2657A>G
  hgvsp: ENSP00000421200.1:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.343A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2657A>G
  hgvsp: ENSP00000372290.3:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2657A>G
  hgvsp: ENSP00000443617.1:p.Glu886Gly
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu886Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

4-2701439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701439
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701439
    reference: chr 4
allele count: 5
allele frequency: 4.267449601420207e-5
allele num: 117166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2667C>T
  hgvsp: ENST00000505311.1:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2733C>T
  hgvsp: ENST00000502458.1:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*265C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2667C>T
  hgvsp: ENST00000324666.5:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.353C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2229C>T
  hgvsp: ENST00000513350.1:c.2229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2667C>T
  hgvsp: ENST00000382839.3:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2667C>T
  hgvsp: ENST00000545951.1:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala889Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

4-2701451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701451
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701451
    reference: chr 4
allele count: 3
allele frequency: 2.552930764517666e-5
allele num: 117512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2679G>A
  hgvsp: ENST00000324666.5:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2679G>A
  hgvsp: ENST00000505311.1:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2679G>A
  hgvsp: ENST00000545951.1:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*277G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2745G>A
  hgvsp: ENST00000502458.1:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.365G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2241G>A
  hgvsp: ENST00000513350.1:c.2241G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2679G>A
  hgvsp: ENST00000382839.3:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu893Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

4-2701451-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701451
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701451
    reference: chr 4
allele count: 1
allele frequency: 8.509769215058888e-6
allele num: 117512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2679G>C
  hgvsp: ENSP00000372290.3:p.Glu893Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2679G>C
  hgvsp: ENSP00000324587.5:p.Glu893Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2241G>C
  hgvsp: ENSP00000427260.1:p.Glu747Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*253G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2745G>C
  hgvsp: ENSP00000427505.1:p.Glu915Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*277G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2679G>C
  hgvsp: ENSP00000421200.1:p.Glu893Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.365G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2679G>C
  hgvsp: ENSP00000443617.1:p.Glu893Asp
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu893Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-2701454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701454
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701454
    reference: chr 4
allele count: 1
allele frequency: 8.507597284374947e-6
allele num: 117542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2748C>T
  hgvsp: ENST00000502458.1:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2682C>T
  hgvsp: ENST00000505311.1:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2244C>T
  hgvsp: ENST00000513350.1:c.2244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2682C>T
  hgvsp: ENST00000545951.1:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2682C>T
  hgvsp: ENST00000324666.5:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.368C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2682C>T
  hgvsp: ENST00000382839.3:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His894His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

4-2701477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701477
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701477
    reference: chr 4
allele count: 1
allele frequency: 8.495887990212738e-6
allele num: 117704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2705G>C
  hgvsp: ENSP00000372290.3:p.Arg902Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2267G>C
  hgvsp: ENSP00000427260.1:p.Arg756Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*303G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*279G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2705G>C
  hgvsp: ENSP00000443617.1:p.Arg902Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.391G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2705G>C
  hgvsp: ENSP00000324587.5:p.Arg902Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2771G>C
  hgvsp: ENSP00000427505.1:p.Arg924Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2705G>C
  hgvsp: ENSP00000421200.1:p.Arg902Thr
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg902Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

4-2701479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701479
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701479
    reference: chr 4
allele count: 3
allele frequency: 2.550846881164547e-5
allele num: 117608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.393C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*305C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2707C>T
  hgvsp: ENSP00000372290.3:p.Arg903Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2707C>T
  hgvsp: ENSP00000421200.1:p.Arg903Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2773C>T
  hgvsp: ENSP00000427505.1:p.Arg925Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2707C>T
  hgvsp: ENSP00000324587.5:p.Arg903Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2707C>T
  hgvsp: ENSP00000443617.1:p.Arg903Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2269C>T
  hgvsp: ENSP00000427260.1:p.Arg757Trp
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg903Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-2701479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701479
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701479
    reference: chr 4
allele count: 1
allele frequency: 8.502822937215155e-6
allele num: 117608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2707C>A
  hgvsp: ENST00000545951.1:c.2707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2707C>A
  hgvsp: ENST00000505311.1:c.2707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2707C>A
  hgvsp: ENST00000382839.3:c.2707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*281C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2773C>A
  hgvsp: ENST00000502458.1:c.2773C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.393C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2269C>A
  hgvsp: ENST00000513350.1:c.2269C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*305C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2707C>A
  hgvsp: ENST00000324666.5:c.2707C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg903Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

4-2701480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701480
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701480
    reference: chr 4
allele count: 3
allele frequency: 2.545004156840123e-5
allele num: 117878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.394G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*306G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2708G>A
  hgvsp: ENSP00000421200.1:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2708G>A
  hgvsp: ENSP00000443617.1:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2708G>A
  hgvsp: ENSP00000372290.3:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2774G>A
  hgvsp: ENSP00000427505.1:p.Arg925Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2708G>A
  hgvsp: ENSP00000324587.5:p.Arg903Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2270G>A
  hgvsp: ENSP00000427260.1:p.Arg757Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*282G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg903Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-2701482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701482
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701482
    reference: chr 4
allele count: 1
allele frequency: 8.484066922319883e-6
allele num: 117868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2272C>T
  hgvsp: ENSP00000427260.1:p.Arg758Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.396C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*308C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2710C>T
  hgvsp: ENSP00000324587.5:p.Arg904Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2710C>T
  hgvsp: ENSP00000443617.1:p.Arg904Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2776C>T
  hgvsp: ENSP00000427505.1:p.Arg926Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2710C>T
  hgvsp: ENSP00000421200.1:p.Arg904Trp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2710C>T
  hgvsp: ENSP00000372290.3:p.Arg904Trp
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg904Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

4-2701483-GGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701483
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701480
    reference: chr 4
allele count: 15
allele frequency: 1.274946452249005e-4
allele num: 117652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2724_2726delGGA
  hgvsp: ENSP00000324587.5:p.Glu908del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2724_2726delGGA
  hgvsp: ENSP00000372290.3:p.Glu908del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.410_412delGGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2286_2288delGGA
  hgvsp: ENSP00000427260.1:p.Glu762del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*322_*324delGGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*298_*300delGGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2790_2792delGGA
  hgvsp: ENSP00000427505.1:p.Glu930del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2724_2726delGGA
  hgvsp: ENSP00000443617.1:p.Glu908del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2724_2726delGGA
  hgvsp: ENSP00000421200.1:p.Glu908del
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18561
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Glu908del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: GGGA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

4-2701485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701485
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701485
    reference: chr 4
allele count: 2
allele frequency: 1.696093895758069e-5
allele num: 117918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2713G>A
  hgvsp: ENSP00000324587.5:p.Glu905Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.399G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2713G>A
  hgvsp: ENSP00000443617.1:p.Glu905Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2713G>A
  hgvsp: ENSP00000372290.3:p.Glu905Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2713G>A
  hgvsp: ENSP00000421200.1:p.Glu905Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2779G>A
  hgvsp: ENSP00000427505.1:p.Glu927Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2275G>A
  hgvsp: ENSP00000427260.1:p.Glu759Lys
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18640
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22250
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu905Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

4-2701487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701487
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701487
    reference: chr 4
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2277G>A
  hgvsp: ENST00000513350.1:c.2277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2781G>A
  hgvsp: ENST00000502458.1:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2715G>A
  hgvsp: ENST00000382839.3:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2715G>A
  hgvsp: ENST00000505311.1:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2715G>A
  hgvsp: ENST00000324666.5:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*289G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2715G>A
  hgvsp: ENST00000545951.1:c.2715G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.401G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu905Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-2701496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701496
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701496
    reference: chr 4
allele count: 2
allele frequency: 1.675715530531537e-5
allele num: 119352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2724G>A
  hgvsp: ENST00000505311.1:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2724G>A
  hgvsp: ENST00000382839.3:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*322G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2790G>A
  hgvsp: ENST00000502458.1:c.2790G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2286G>A
  hgvsp: ENST00000513350.1:c.2286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2724G>A
  hgvsp: ENST00000545951.1:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2724G>A
  hgvsp: ENST00000324666.5:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*298G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.410G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu908Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

4-2701499-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701499
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701499
    reference: chr 4
allele count: 2
allele frequency: 1.673416111650323e-5
allele num: 119516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2727T>G
  hgvsp: ENSP00000372290.3:p.Asp909Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2289T>G
  hgvsp: ENSP00000427260.1:p.Asp763Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2793T>G
  hgvsp: ENSP00000427505.1:p.Asp931Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2727T>G
  hgvsp: ENSP00000421200.1:p.Asp909Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2727T>G
  hgvsp: ENSP00000443617.1:p.Asp909Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*301T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2727T>G
  hgvsp: ENSP00000324587.5:p.Asp909Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*325T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.413T>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp909Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

4-2701502-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701502
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701499
    reference: chr 4
allele count: 1
allele frequency: 8.356452852893003e-6
allele num: 119668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2736_2738delAGA
  hgvsp: ENSP00000372290.3:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*334_*336delAGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2298_2300delAGA
  hgvsp: ENSP00000427260.1:p.Glu768del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2736_2738delAGA
  hgvsp: ENSP00000324587.5:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*310_*312delAGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2736_2738delAGA
  hgvsp: ENSP00000443617.1:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.422_424delAGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2802_2804delAGA
  hgvsp: ENSP00000427505.1:p.Glu936del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2736_2738delAGA
  hgvsp: ENSP00000421200.1:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu914del
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GGAA
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-2701505-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701505
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701505
    reference: chr 4
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2799A>T
  hgvsp: ENSP00000427505.1:p.Glu933Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2733A>T
  hgvsp: ENSP00000324587.5:p.Glu911Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.419A>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*331A>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2295A>T
  hgvsp: ENSP00000427260.1:p.Glu765Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*307A>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2733A>T
  hgvsp: ENSP00000421200.1:p.Glu911Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2733A>T
  hgvsp: ENSP00000372290.3:p.Glu911Asp
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2733A>T
  hgvsp: ENSP00000443617.1:p.Glu911Asp
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu911Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

4-2701508-AGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701505
    reference: chr 4
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2742_2744delGGA
  hgvsp: ENSP00000443617.1:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2742_2744delGGA
  hgvsp: ENSP00000324587.5:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2808_2810delGGA
  hgvsp: ENSP00000427505.1:p.Glu936del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*316_*318delGGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2742_2744delGGA
  hgvsp: ENSP00000372290.3:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2304_2306delGGA
  hgvsp: ENSP00000427260.1:p.Glu768del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*340_*342delGGA
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2742_2744delGGA
  hgvsp: ENSP00000421200.1:p.Glu914del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.428_430delGGA
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu914del
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: AGAG
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

4-2701512-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701512
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701512
    reference: chr 4
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2740G>T
  hgvsp: ENSP00000421200.1:p.Glu914Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2740G>T
  hgvsp: ENSP00000324587.5:p.Glu914Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2302G>T
  hgvsp: ENSP00000427260.1:p.Glu768Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2740G>T
  hgvsp: ENSP00000372290.3:p.Glu914Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2806G>T
  hgvsp: ENSP00000427505.1:p.Glu936Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2740G>T
  hgvsp: ENSP00000443617.1:p.Glu914Ter
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.426G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*314G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*338G>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu914Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

4-2701514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701514
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701514
    reference: chr 4
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.428G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*340G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2742G>A
  hgvsp: ENST00000545951.1:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2304G>A
  hgvsp: ENST00000513350.1:c.2304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2742G>A
  hgvsp: ENST00000505311.1:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2742G>A
  hgvsp: ENST00000382839.3:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2742G>A
  hgvsp: ENST00000324666.5:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*316G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2808G>A
  hgvsp: ENST00000502458.1:c.2808G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu914Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

4-2701518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701518
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701518
    reference: chr 4
allele count: 15
allele frequency: 1.251000800640512e-4
allele num: 119904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*344C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2746C>T
  hgvsp: ENSP00000372290.3:p.Arg916Cys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2746C>T
  hgvsp: ENSP00000421200.1:p.Arg916Cys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.432C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2812C>T
  hgvsp: ENSP00000427505.1:p.Arg938Cys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2746C>T
  hgvsp: ENSP00000443617.1:p.Arg916Cys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2746C>T
  hgvsp: ENSP00000324587.5:p.Arg916Cys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*320C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2308C>T
  hgvsp: ENSP00000427260.1:p.Arg770Cys
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19446
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg916Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-2701524-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701524
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701524
    reference: chr 4
allele count: 8
allele frequency: 6.658787101929383e-5
allele num: 120142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.438A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2752A>C
  hgvsp: ENSP00000324587.5:p.Lys918Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2818A>C
  hgvsp: ENSP00000427505.1:p.Lys940Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*326A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*350A>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2752A>C
  hgvsp: ENSP00000421200.1:p.Lys918Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2314A>C
  hgvsp: ENSP00000427260.1:p.Lys772Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2752A>C
  hgvsp: ENSP00000443617.1:p.Lys918Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2752A>C
  hgvsp: ENSP00000372290.3:p.Lys918Gln
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys918Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

4-2701540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701540
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701540
    reference: chr 4
allele count: 135
allele frequency: 1.121821505733754e-3
allele num: 120340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2834G>A
  hgvsp: ENSP00000427505.1:p.Arg945Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.454G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2768G>A
  hgvsp: ENSP00000443617.1:p.Arg923Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*342G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2768G>A
  hgvsp: ENSP00000372290.3:p.Arg923Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2768G>A
  hgvsp: ENSP00000421200.1:p.Arg923Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2330G>A
  hgvsp: ENSP00000427260.1:p.Arg777Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2768G>A
  hgvsp: ENSP00000324587.5:p.Arg923Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*366G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 20199
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14356
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg923Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-2701540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701540
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701540
    reference: chr 4
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2768G>T
  hgvsp: ENSP00000372290.3:p.Arg923Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*342G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.454G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2834G>T
  hgvsp: ENSP00000427505.1:p.Arg945Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*366G>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2768G>T
  hgvsp: ENSP00000443617.1:p.Arg923Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2768G>T
  hgvsp: ENSP00000421200.1:p.Arg923Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2330G>T
  hgvsp: ENSP00000427260.1:p.Arg777Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2768G>T
  hgvsp: ENSP00000324587.5:p.Arg923Leu
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg923Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-2701542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701542
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701542
    reference: chr 4
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2332C>T
  hgvsp: ENSP00000427260.1:p.Leu778Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2770C>T
  hgvsp: ENSP00000372290.3:p.Leu924Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*368C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2770C>T
  hgvsp: ENSP00000324587.5:p.Leu924Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2836C>T
  hgvsp: ENSP00000427505.1:p.Leu946Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2770C>T
  hgvsp: ENSP00000443617.1:p.Leu924Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2770C>T
  hgvsp: ENSP00000421200.1:p.Leu924Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.456C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*344C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu924Phe
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: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS

4-2701543-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701543
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701543
    reference: chr 4
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2771T>G
  hgvsp: ENSP00000324587.5:p.Leu924Arg
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.457T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2771T>G
  hgvsp: ENSP00000443617.1:p.Leu924Arg
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2837T>G
  hgvsp: ENSP00000427505.1:p.Leu946Arg
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*369T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2771T>G
  hgvsp: ENSP00000421200.1:p.Leu924Arg
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*345T>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2333T>G
  hgvsp: ENSP00000427260.1:p.Leu778Arg
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2771T>G
  hgvsp: ENSP00000372290.3:p.Leu924Arg
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu924Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-2701549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701549
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701549
    reference: chr 4
allele count: 3
allele frequency: 2.488552657774238e-5
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2339A>G
  hgvsp: ENSP00000427260.1:p.Glu780Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2777A>G
  hgvsp: ENSP00000421200.1:p.Glu926Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2843A>G
  hgvsp: ENSP00000427505.1:p.Glu948Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2777A>G
  hgvsp: ENSP00000324587.5:p.Glu926Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*351A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2777A>G
  hgvsp: ENSP00000443617.1:p.Glu926Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.463A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2777A>G
  hgvsp: ENSP00000372290.3:p.Glu926Gly
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28976
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu926Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-2701557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701557
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701557
    reference: chr 4
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2851A>G
  hgvsp: ENSP00000427505.1:p.Lys951Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*383A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2785A>G
  hgvsp: ENSP00000443617.1:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.471A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2785A>G
  hgvsp: ENSP00000372290.3:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2347A>G
  hgvsp: ENSP00000427260.1:p.Lys783Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2785A>G
  hgvsp: ENSP00000421200.1:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2785A>G
  hgvsp: ENSP00000324587.5:p.Lys929Glu
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys929Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

4-2701560-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701560
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701560
    reference: chr 4
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*362C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2854C>G
  hgvsp: ENSP00000427505.1:p.Leu952Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2788C>G
  hgvsp: ENSP00000324587.5:p.Leu930Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2350C>G
  hgvsp: ENSP00000427260.1:p.Leu784Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.474C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2788C>G
  hgvsp: ENSP00000421200.1:p.Leu930Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*386C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2788C>G
  hgvsp: ENSP00000372290.3:p.Leu930Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2788C>G
  hgvsp: ENSP00000443617.1:p.Leu930Val
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu930Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

4-2701563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701563
    reference: chr 4
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2791A>G
  hgvsp: ENSP00000421200.1:p.Arg931Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*389A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2791A>G
  hgvsp: ENSP00000324587.5:p.Arg931Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.477A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2857A>G
  hgvsp: ENSP00000427505.1:p.Arg953Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*365A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2353A>G
  hgvsp: ENSP00000427260.1:p.Arg785Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2791A>G
  hgvsp: ENSP00000372290.3:p.Arg931Gly
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2791A>G
  hgvsp: ENSP00000443617.1:p.Arg931Gly
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg931Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

4-2701564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701564
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701564
    reference: chr 4
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.478G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2792G>A
  hgvsp: ENSP00000443617.1:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2792G>A
  hgvsp: ENSP00000421200.1:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2354G>A
  hgvsp: ENSP00000427260.1:p.Arg785Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2792G>A
  hgvsp: ENSP00000372290.3:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2858G>A
  hgvsp: ENSP00000427505.1:p.Arg953Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*366G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2792G>A
  hgvsp: ENSP00000324587.5:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*390G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg931Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-2701569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701569
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701569
    reference: chr 4
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2797G>A
  hgvsp: ENSP00000372290.3:p.Val933Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2797G>A
  hgvsp: ENSP00000421200.1:p.Val933Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2797G>A
  hgvsp: ENSP00000324587.5:p.Val933Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2863G>A
  hgvsp: ENSP00000427505.1:p.Val955Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2359G>A
  hgvsp: ENSP00000427260.1:p.Val787Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2797G>A
  hgvsp: ENSP00000443617.1:p.Val933Ile
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.483G>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val933Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

4-2701571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701571
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701571
    reference: chr 4
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2799A>G
  hgvsp: ENST00000545951.1:c.2799A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.485A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2799A>G
  hgvsp: ENST00000505311.1:c.2799A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2799A>G
  hgvsp: ENST00000382839.3:c.2799A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2361A>G
  hgvsp: ENST00000513350.1:c.2361A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*397A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*373A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2865A>G
  hgvsp: ENST00000502458.1:c.2865A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2799A>G
  hgvsp: ENST00000324666.5:c.2799A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val933Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

4-2701574-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701574
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701571
    reference: chr 4
allele count: 15
allele frequency: 1.239976853765396e-4
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2374_2376delAAG
  hgvsp: ENSP00000427260.1:p.Lys792del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2812_2814delAAG
  hgvsp: ENSP00000324587.5:p.Lys938del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*386_*388delAAG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*410_*412delAAG
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2812_2814delAAG
  hgvsp: ENSP00000372290.3:p.Lys938del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2878_2880delAAG
  hgvsp: ENSP00000427505.1:p.Lys960del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2812_2814delAAG
  hgvsp: ENSP00000443617.1:p.Lys938del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2812_2814delAAG
  hgvsp: ENSP00000421200.1:p.Lys938del
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.498_500delAAG
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Lys938del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: AAAG
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

4-2701584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701584
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701584
    reference: chr 4
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2812A>G
  hgvsp: ENSP00000443617.1:p.Lys938Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.498A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2374A>G
  hgvsp: ENSP00000427260.1:p.Lys792Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2812A>G
  hgvsp: ENSP00000421200.1:p.Lys938Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2812A>G
  hgvsp: ENSP00000324587.5:p.Lys938Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*410A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2878A>G
  hgvsp: ENSP00000427505.1:p.Lys960Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2812A>G
  hgvsp: ENSP00000372290.3:p.Lys938Glu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*386A>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys938Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-2701594-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701594
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701594
    reference: chr 4
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.508C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2822C>A
  hgvsp: ENSP00000443617.1:p.Pro941Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2822C>A
  hgvsp: ENSP00000421200.1:p.Pro941Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2384C>A
  hgvsp: ENSP00000427260.1:p.Pro795Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2822C>A
  hgvsp: ENSP00000372290.3:p.Pro941Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2888C>A
  hgvsp: ENSP00000427505.1:p.Pro963Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2822C>A
  hgvsp: ENSP00000324587.5:p.Pro941Gln
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*396C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*420C>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro941Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-2701609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701609
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701609
    reference: chr 4
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.523C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2837C>T
  hgvsp: ENSP00000372290.3:p.Pro946Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2903C>T
  hgvsp: ENSP00000427505.1:p.Pro968Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2399C>T
  hgvsp: ENSP00000427260.1:p.Pro800Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2837C>T
  hgvsp: ENSP00000421200.1:p.Pro946Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2837C>T
  hgvsp: ENSP00000443617.1:p.Pro946Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*411C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2837C>T
  hgvsp: ENSP00000324587.5:p.Pro946Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*435C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro946Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-2701610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701610
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701610
    reference: chr 4
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2400C>G
  hgvsp: ENST00000513350.1:c.2400C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*412C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2838C>G
  hgvsp: ENST00000545951.1:c.2838C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2838C>G
  hgvsp: ENST00000505311.1:c.2838C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2838C>G
  hgvsp: ENST00000382839.3:c.2838C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.524C>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2838C>G
  hgvsp: ENST00000324666.5:c.2838C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2904C>G
  hgvsp: ENST00000502458.1:c.2904C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*436C>G
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro946Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-2701614-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701614
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701614
    reference: chr 4
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2842T>A
  hgvsp: ENSP00000443617.1:p.Leu948Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2842T>A
  hgvsp: ENSP00000372290.3:p.Leu948Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2908T>A
  hgvsp: ENSP00000427505.1:p.Leu970Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*416T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2842T>A
  hgvsp: ENSP00000421200.1:p.Leu948Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*440T>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2404T>A
  hgvsp: ENSP00000427260.1:p.Leu802Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2842T>A
  hgvsp: ENSP00000324587.5:p.Leu948Met
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.528T>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu948Met
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

4-2701616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701616
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701616
    reference: chr 4
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2844G>C
  hgvsp: ENSP00000372290.3:p.Leu948Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.530G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2844G>C
  hgvsp: ENSP00000421200.1:p.Leu948Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2844G>C
  hgvsp: ENSP00000324587.5:p.Leu948Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*418G>C
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2910G>C
  hgvsp: ENSP00000427505.1:p.Leu970Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2406G>C
  hgvsp: ENSP00000427260.1:p.Leu802Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2844G>C
  hgvsp: ENSP00000443617.1:p.Leu948Phe
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*442G>C
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu948Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

4-2701619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701619
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701619
    reference: chr 4
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2847C>T
  hgvsp: ENST00000505311.1:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2409C>T
  hgvsp: ENST00000513350.1:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2847C>T
  hgvsp: ENST00000324666.5:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2913C>T
  hgvsp: ENST00000502458.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*421C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2847C>T
  hgvsp: ENST00000382839.3:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2847C>T
  hgvsp: ENST00000545951.1:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*445C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.533C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp949Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-2701620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701620
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701620
    reference: chr 4
allele count: 3
allele frequency: 2.478150968957029e-5
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2848A>G
  hgvsp: ENSP00000421200.1:p.Met950Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2410A>G
  hgvsp: ENSP00000427260.1:p.Met804Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2914A>G
  hgvsp: ENSP00000427505.1:p.Met972Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2848A>G
  hgvsp: ENSP00000324587.5:p.Met950Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*422A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.534A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2848A>G
  hgvsp: ENSP00000443617.1:p.Met950Val
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*446A>G
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2848A>G
  hgvsp: ENSP00000372290.3:p.Met950Val
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met950Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-2701620-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701620
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701620
    reference: chr 4
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2848A>T
  hgvsp: ENSP00000421200.1:p.Met950Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2848A>T
  hgvsp: ENSP00000372290.3:p.Met950Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*446A>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2848A>T
  hgvsp: ENSP00000324587.5:p.Met950Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2914A>T
  hgvsp: ENSP00000427505.1:p.Met972Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2848A>T
  hgvsp: ENSP00000443617.1:p.Met950Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*422A>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2410A>T
  hgvsp: ENSP00000427260.1:p.Met804Leu
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.534A>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met950Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

4-2701625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701625
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701625
    reference: chr 4
allele count: 2
allele frequency: 1.652155236506022e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2919C>T
  hgvsp: ENST00000502458.1:c.2919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2853C>T
  hgvsp: ENST00000382839.3:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2415C>T
  hgvsp: ENST00000513350.1:c.2415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2853C>T
  hgvsp: ENST00000505311.1:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*427C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2853C>T
  hgvsp: ENST00000545951.1:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.539C>T
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2853C>T
  hgvsp: ENST00000324666.5:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*451C>T
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu951Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-2701627-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701627
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701627
    reference: chr 4
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.541C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2921C>A
  hgvsp: ENSP00000427505.1:p.Thr974Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2855C>A
  hgvsp: ENSP00000443617.1:p.Thr952Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2855C>A
  hgvsp: ENSP00000324587.5:p.Thr952Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2855C>A
  hgvsp: ENSP00000421200.1:p.Thr952Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2417C>A
  hgvsp: ENSP00000427260.1:p.Thr806Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2855C>A
  hgvsp: ENSP00000372290.3:p.Thr952Asn
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*453C>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*429C>A
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr952Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

4-2701641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2701641
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 2701641
    reference: chr 4
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421369
  ensembl transcript: ENST00000513898
  gene symbol: FAM193A
  hgvsc: ENST00000513898.1:c.*467G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000324587
  ensembl transcript: ENST00000324666
  gene symbol: FAM193A
  hgvsc: ENST00000324666.5:c.2869G>A
  hgvsp: ENSP00000324587.5:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000423852
  ensembl transcript: ENST00000512465
  gene symbol: FAM193A
  hgvsc: ENST00000512465.1:c.*443G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427505
  ensembl transcript: ENST00000502458
  gene symbol: FAM193A
  hgvsc: ENST00000502458.1:c.2935G>A
  hgvsp: ENSP00000427505.1:p.Ala979Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000421200
  ensembl transcript: ENST00000505311
  gene symbol: FAM193A
  hgvsc: ENST00000505311.1:c.2869G>A
  hgvsp: ENSP00000421200.1:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000427260
  ensembl transcript: ENST00000513350
  gene symbol: FAM193A
  hgvsc: ENST00000513350.1:c.2431G>A
  hgvsp: ENSP00000427260.1:p.Ala811Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125386
  ensembl transcript: ENST00000506120
  gene symbol: FAM193A
  hgvsc: ENST00000506120.1:n.555G>A
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000372290
  ensembl transcript: ENST00000382839
  gene symbol: FAM193A
  hgvsc: ENST00000382839.3:c.2869G>A
  hgvsp: ENSP00000372290.3:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/16822
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125386
  ensembl protein: ENSP00000443617
  ensembl transcript: ENST00000545951
  gene symbol: FAM193A
  hgvsc: ENST00000545951.1:c.2869G>A
  hgvsp: ENSP00000443617.1:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/16822
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala957Thr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7820
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.594566077552098e-5
allele num: 15164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.416e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.041423e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1838
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 460
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 5424
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.641870350690754e-5
allele num: 15056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.038040609494317e-5
allele num: 56834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.042e1

DP
type: SiteQuality
SIO_000300: 1.032817e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 5546
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5541
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.754632229084784e-5
allele num: 56992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 1.02408e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.577e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8473
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14696
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 9.78966e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

GenotypeQuality
all individuals: 3708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8471
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.746160185809545e-5
allele num: 53388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 9.75194e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

GenotypeQuality
all individuals: 24113
bin: 9.75e1
variant carriers: 23876

GenotypeQuality
all individuals: 1475
bin: 7.5e0
variant carriers: 251

GenotypeQuality
all individuals: 3290
bin: 3.75e1
variant carriers: 1381

GenotypeQuality
all individuals: 1451
bin: 1.75e1
variant carriers: 654

GenotypeQuality
all individuals: 1094
bin: 1.25e1
variant carriers: 322

GenotypeQuality
all individuals: 1236
bin: 6.75e1
variant carriers: 832

GenotypeQuality
all individuals: 2564
bin: 2.75e1
variant carriers: 695

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 518

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 621

GenotypeQuality
all individuals: 812
bin: 8.25e1
variant carriers: 727

GenotypeQuality
all individuals: 6373
bin: 2.25e1
variant carriers: 999

GenotypeQuality
all individuals: 2117
bin: 4.75e1
variant carriers: 1334

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 646

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 707

GenotypeQuality
all individuals: 1485
bin: 4.25e1
variant carriers: 795

African
type: Population
allele count: 2318
allele frequency: 2.890274314214464e-1
allele num: 8020
num of homozygotes: 325

East Asian
type: Population
allele count: 2535
allele frequency: 4.261936785474109e-1
allele num: 5948
num of homozygotes: 513

Latino
type: Population
allele count: 5535
allele frequency: 6.851943550383759e-1
allele num: 8078
num of homozygotes: 1904

European (Finnish)
type: Population
allele count: 2113
allele frequency: 3.854432688799708e-1
allele num: 5482
num of homozygotes: 384

European (Non-Finnish)
type: Population
allele count: 22229
allele frequency: 4.239424800701835e-1
allele num: 52434
num of homozygotes: 4427

Other
type: Population
allele count: 319
allele frequency: 4.276139410187668e-1
allele num: 746
num of homozygotes: 73

South Asian
type: Population
allele count: 6629
allele frequency: 4.562284927735719e-1
allele num: 14530
num of homozygotes: 1530

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.18e0

DP
type: SiteQuality
SIO_000300: 9.95649e5

QD
type: SiteQuality
SIO_000300: 2.002e1

GenotypeQuality
all individuals: 451
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8720
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 3606
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variant carriers: 0

GenotypeQuality
all individuals: 13864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.373626373626374e-3
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13928
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.2033e5

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 326
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GenotypeQuality
all individuals: 1049
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.810975609756098e-4
allele num: 5248
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 4.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
SIO_000300: 9.16439e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15690
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 1967
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 5959
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variant carriers: 1

GenotypeQuality
all individuals: 4521
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variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
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variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 3.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 7.899e0

QD
type: SiteQuality
SIO_000300: 8.34e0

DP
type: SiteQuality
SIO_000300: 1.660487e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeQuality
all individuals: 286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1644
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4228
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GenotypeQuality
all individuals: 1958
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60374635147705e-5
allele num: 62354
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.662048e6

GenotypeQuality
all individuals: 1678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 275
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62374
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

DP
type: SiteQuality
SIO_000300: 1.669532e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.003e1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1667
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variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1923
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GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.60141063134354e-5
allele num: 11626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 5.546e0

DP
type: SiteQuality
SIO_000300: 1.679845e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600563398316207e-5
allele num: 62478
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 1.679845e6

QD
type: SiteQuality
SIO_000300: 1.021e1

FS
type: SiteQuality
SIO_000300: 5.546e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4245
bin: 7.25e1
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GenotypeQuality
all individuals: 1920
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.59600806064677e-5
allele num: 62526
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11742
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598874392427731e-5
allele num: 62544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 3.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

VQSLOD
type: SiteQuality
SIO_000300: -3.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.685825e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 224

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.390184676337147e-5
allele num: 62596
num of homozygotes: 0

African
type: Population
allele count: 210
allele frequency: 2.402196293754289e-2
allele num: 8742
num of homozygotes: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11912
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.450980392156863e-3
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.601955307262569e-4
allele num: 11456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 1.692141e6

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3842
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8925
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.143118427069044e-4
allele num: 8748
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.319e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.693531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21155
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variant carriers: 0

GenotypeQuality
all individuals: 8943
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.296001327360213e-5
allele num: 12054
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.696258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 3.023e0

QD
type: SiteQuality
SIO_000300: 1.606e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

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

GenotypeQuality
all individuals: 8998
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variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01667468334135e-5
allele num: 12474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62800
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.708394e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.319e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 242
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62926
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.717613e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.177e0

GenotypeQuality
all individuals: 5927
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 9028
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.627394080092861e-4
allele num: 13784
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582228410493339e-5
allele num: 63202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.730995e6

VQSLOD
type: SiteQuality
SIO_000300: -1.432e-1

FS
type: SiteQuality
SIO_000300: 1.0637e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5927
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 694
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 277
bin: 4.75e1
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GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
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GenotypeQuality
all individuals: 9028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13784
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582228410493339e-5
allele num: 63202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.432e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 1.0637e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

DP
type: SiteQuality
SIO_000300: 1.730995e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 2.25e1
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GenotypeQuality
all individuals: 4339
bin: 7.75e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5921
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571338780641106e-5
allele num: 63640
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
type: SiteQuality
SIO_000300: 1.748298e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64146
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.472222222222222e-4
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 1.774143e6

QD
type: SiteQuality
SIO_000300: 1.172e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 5.633e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558943659776136e-5
allele num: 64146
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.633e0

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.774143e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.441483455474128e-4
allele num: 9006
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64220
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 3.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 1.781169e6

QD
type: SiteQuality
SIO_000300: 1.111e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.492433061699651e-4
allele num: 8590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64344
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

FS
type: SiteQuality
SIO_000300: 5.911e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 1.786727e6

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

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25745
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64344
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 5.911e0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 1.786727e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554146462762651e-5
allele num: 64344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

FS
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.788355e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3087
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553470452991984e-5
allele num: 64372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 1.478e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.781032e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 307
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.665049449524165e-5
allele num: 64308
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.407e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
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SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 1.782127e6

GenotypeQuality
all individuals: 5898
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64308
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

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

East Asian
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allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

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

FS
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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SIO_000300: 5.8e-1

MQ
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SIO_000300: 5.963e1

DP
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SIO_000300: 1.782127e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.654626698938745e-5
allele num: 64452
num of homozygotes: 0

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

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

ClippingRankSum
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SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.84e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.406e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.779379e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.551590380139643e-5
allele num: 64450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.832e1

DP
type: SiteQuality
SIO_000300: 1.780572e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 7.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.851e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 5.049e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.764216280008696e-5
allele num: 64398
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.518029903254178e-4
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.143994969608048e-4
allele num: 9542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.78516e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.962e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546981838433217e-5
allele num: 64642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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: 874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.353e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.74246384387524e-4
allele num: 11478
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65372
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1477
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.054647646393989e-5
allele num: 65474
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65578
num of homozygotes: 0

South Asian
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allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523275651961979e-5
allele num: 65648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.826e0

VQSLOD
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QD
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.793056e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.795119e6

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.367e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

QD
type: SiteQuality
SIO_000300: 1.696e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.163e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

South Asian
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allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 1.131e1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

African
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allele count: 9
allele frequency: 8.766803039158387e-4
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521282745611099e-5
allele num: 65734
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European (Finnish)
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Latino
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allele frequency: 4.359197907585005e-4
allele num: 11470
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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MQ
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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QD
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.062408936376882e-4
allele num: 65888
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

Other
type: Population
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East Asian
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allele count: 0
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African
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 129
allele frequency: 1.252184041933605e-2
allele num: 10302
num of homozygotes: 0

Other
type: Population
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East Asian
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allele count: 1
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allele num: 8516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.543664616969073e-5
allele num: 66026
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

DP
type: SiteQuality
SIO_000300: 1.824369e6

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.443e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.824369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1890
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
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SIO_000300: -4.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.716e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.821551e6

MQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

FS
type: SiteQuality
SIO_000300: 3.786e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 1.821641e6

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 2.534e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

GenotypeQuality
all individuals: 1890
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.908667830133799e-4
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.822645e6

FS
type: SiteQuality
SIO_000300: 1.349e0

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.603e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.917e0

MQRankSum
type: SiteQuality
SIO_000300: -1.436e0

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

QD
type: SiteQuality
SIO_000300: 1.846e1

FS
type: SiteQuality
SIO_000300: 5.63e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.826464e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1891
bin: 9.25e1
variant carriers: 0

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

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: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
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European (Non-Finnish)
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East Asian
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Other
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Latino
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South Asian
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European (Finnish)
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Other
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African
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Latino
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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Other
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 3157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5888
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.314e0

DP
type: SiteQuality
SIO_000300: 1.829682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.275e0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.858e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.144e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.829609e6

FS
type: SiteQuality
SIO_000300: 3.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.449e1

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

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508024283224139e-5
allele num: 66548
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.830022e6

QD
type: SiteQuality
SIO_000300: 1.065e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5891
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.065e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 1.830022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
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variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5892
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.027e0

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.227e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.830091e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.228e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 4261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9206
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

FS
type: SiteQuality
SIO_000300: 1.827e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 1.829992e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.826e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0