11-57505325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505325
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505325
    reference: chr 11
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+185C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+185C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.429C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.268C>T
  hgvsp: ENSP00000437023.1:p.Gln90Ter
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-60C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+185C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.268C>T
  hgvsp: ENSP00000431695.1:p.Gln90Ter
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+185C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+185C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln90Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-57505326-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505326
    reference: chr 11
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+186A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.430A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+186A>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.269A>T
  hgvsp: ENSP00000431695.1:p.Gln90Leu
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.269A>T
  hgvsp: ENSP00000437023.1:p.Gln90Leu
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+186A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+186A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*64A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-59A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+186A>T
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln90Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-57505327-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505327
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505327
    reference: chr 11
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+187A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-58A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+187A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+187A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.431A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.270A>G
  hgvsp: ENST00000525035.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+187A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.270A>G
  hgvsp: ENST00000529403.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*65A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+187A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln90Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-57505333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505333
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505333
    reference: chr 11
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-52G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.276G>A
  hgvsp: ENSP00000431695.1:p.Met92Ile
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.437G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+193G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+193G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.276G>A
  hgvsp: ENSP00000437023.1:p.Met92Ile
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+193G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+193G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+193G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met92Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-57505346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505346
    reference: chr 11
allele count: 5
allele frequency: 4.121264074116813e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+206G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.289G>A
  hgvsp: ENSP00000437023.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+206G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+206G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-39G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*84G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+206G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.289G>A
  hgvsp: ENSP00000431695.1:p.Ala97Thr
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+206G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.450G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala97Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-57505350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505350
    reference: chr 11
allele count: 4
allele frequency: 3.295978905735003e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+210A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.293A>G
  hgvsp: ENSP00000431695.1:p.Gln98Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.454A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+210A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*88A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.293A>G
  hgvsp: ENSP00000437023.1:p.Gln98Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+210A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+210A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+210A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-35A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln98Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-57505361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505361
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505361
    reference: chr 11
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+221A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+221A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-24A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.304A>G
  hgvsp: ENSP00000437023.1:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.304A>G
  hgvsp: ENSP00000431695.1:p.Thr102Ala
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+221A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.465A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+221A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+221A>G
  variant of: http://identifiers.org/hgnc/41992
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr102Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-57505370-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505370
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505370
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+230A>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.474A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*108A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.313A>T
  hgvsp: ENSP00000431695.1:p.Ile105Phe
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.313A>T
  hgvsp: ENSP00000437023.1:p.Ile105Phe
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+230A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+230A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+230A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+230A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-15A>T
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile105Phe
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/11-57505372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505372
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505372
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*110C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.476C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-13C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+232C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+232C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+232C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+232C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.315C>A
  hgvsp: ENST00000529403.1:c.315C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.315C>A
  hgvsp: ENST00000525035.1:c.315C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+232C>A
  variant of: http://identifiers.org/hgnc/41992
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile105Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

11-57505374-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505374
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505372
    reference: chr 11
allele count: 9
allele frequency: 7.413875479842496e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.321_322delGT
  hgvsp: ENSP00000431695.1:p.Phe108SerfsTer60
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+238_250+239delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-7_251-6delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+238_250+239delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.482_483delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*116_*117delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+238_250+239delGT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.321_322delGT
  hgvsp: ENSP00000437023.1:p.Phe108SerfsTer215
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+238_250+239delGT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+238_250+239delGT
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe108SerfsTer215
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: CTG
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-57505383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505383
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505383
    reference: chr 11
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+243A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.326A>G
  hgvsp: ENSP00000431695.1:p.Gln109Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.251-2A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+243A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+243A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*121A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.487A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.326A>G
  hgvsp: ENSP00000437023.1:p.Gln109Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+243A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+243A>G
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.75e1
  variant carriers: 0
hgvs: c.251-2A>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

11-57505391-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505391
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505391
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*129T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.257T>C
  hgvsp: ENSP00000278422.4:p.Val86Ala
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+251T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.334T>C
  hgvsp: ENSP00000431695.1:p.Trp112Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+251T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.495T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.334T>C
  hgvsp: ENSP00000437023.1:p.Trp112Arg
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+251T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+251T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+251T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val86Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

11-57505403-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505403
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505403
    reference: chr 11
allele count: 19
allele frequency: 1.565125704306567e-4
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*141T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+263T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+263T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.507T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+263T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.346T>C
  hgvsp: ENSP00000437023.1:p.Ter116GlnextTer31
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.346T>C
  hgvsp: ENSP00000431695.1:p.Ter116GlnextTer31
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+263T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.269T>C
  hgvsp: ENSP00000278422.4:p.Ile90Thr
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+263T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ter116GlnextTer31
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-57505434-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505434
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505434
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+294C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*29C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+294C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*29C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+294C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+294C>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.300C>A
  hgvsp: ENST00000278422.4:c.300C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.538C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*172C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+294C>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala100Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

11-57505449-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505449
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505449
    reference: chr 11
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*44C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*44C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+309C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+309C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.315C>G
  hgvsp: ENSP00000278422.4:p.Phe105Leu
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*187C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+309C>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+309C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.553C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+309C>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe105Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

11-57505453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505453
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505453
    reference: chr 11
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+313C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+313C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.557C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+313C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+313C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.319C>T
  hgvsp: ENSP00000278422.4:p.Arg107Cys
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+313C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg107Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum

11-57505455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505455
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505455
    reference: chr 11
allele count: 204
allele frequency: 1.683390546606813e-3
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+315C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+315C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*193C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+315C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+315C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+315C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.321C>T
  hgvsp: ENST00000278422.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.559C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34729
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg107Arg
num of homozygotes: 4
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

11-57505459-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505459
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505459
    reference: chr 11
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+319G>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*197G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+319G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*54G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.325G>T
  hgvsp: ENSP00000278422.4:p.Asp109Tyr
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.563G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*54G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+319G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+319G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+319G>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp109Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

11-57505460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505460
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505460
    reference: chr 11
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+320A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*198A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.564A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+320A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+320A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+320A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.326A>G
  hgvsp: ENSP00000278422.4:p.Asp109Gly
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+320A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp109Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

11-57505463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505463
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505463
    reference: chr 11
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+323T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+323T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.567T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*201T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+323T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.329T>C
  hgvsp: ENSP00000278422.4:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+323T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*58T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*58T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+323T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile110Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

11-57505465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505465
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505465
    reference: chr 11
allele count: 3
allele frequency: 2.478478544637399e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.569C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+325C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.331C>T
  hgvsp: ENSP00000278422.4:p.Arg111Cys
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+325C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+325C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+325C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+325C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg111Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-57505466-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505466
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505466
    reference: chr 11
allele count: 3
allele frequency: 2.478847170809096e-5
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.570G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+326G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.332G>C
  hgvsp: ENSP00000278422.4:p.Arg111Pro
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+326G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+326G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*61G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*204G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*61G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+326G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+326G>C
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg111Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

11-57505468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505468
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505468
    reference: chr 11
allele count: 7
allele frequency: 5.785602115877345e-5
allele num: 120990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*206A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+328A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+328A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*63A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+328A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.572A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*63A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.334A>G
  hgvsp: ENSP00000278422.4:p.Met112Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+328A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+328A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met112Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-57505482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505482
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505482
    reference: chr 11
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+342C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+342C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+342C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.586C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.348C>T
  hgvsp: ENST00000278422.4:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+342C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+342C>T
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr116Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

11-57505483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505483
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505483
    reference: chr 11
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.250+343A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*78A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+343A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.349A>G
  hgvsp: ENSP00000278422.4:p.Ile117Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+343A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+343A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*221A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*78A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.587A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+343A>G
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile117Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-57505486-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505486
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505486
    reference: chr 11
allele count: 5
allele frequency: 4.144218814753419e-5
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*81A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*81A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-340A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+346A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+346A>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.352A>T
  hgvsp: ENSP00000278422.4:p.Thr118Ser
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+346A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.590A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+346A>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*224A>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr118Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-57505495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505495
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505495
    reference: chr 11
allele count: 52
allele frequency: 4.318434733502749e-4
allele num: 120414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+355A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.361A>G
  hgvsp: ENSP00000278422.4:p.Ile121Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+355A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-331A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+355A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+355A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.599A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*233A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile121Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-57505511-CCTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505511
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505507
    reference: chr 11
allele count: 47
allele frequency: 4.022250748823277e-4
allele num: 116850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+22_*93+25delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-306_251-303delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+22_*236+25delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+22_*93+25delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+380_250+383delCTTT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+380_250+383delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+380_250+383delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.624_627delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+22_364+25delCTTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+380_250+383delCTTT
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32714
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 9.75e1
  variant carriers: 34
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CCTTT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

11-57505517-TTTCTTTTTTTTTTTTTGTAAGACTGTGTTGATAGACTTGATTGTGGAAACCACAGTCCCAACAGTTGCAATCCCAAACATGTTTCTCCATACCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505423
    reference: chr 11
allele count: 1
allele frequency: 8.808710052499912e-6
allele num: 113524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: TTTCTTTTTTTTTTTTTGTAAGACTGTGTTGATAGACTTGATTGTGGAAACCACAGTCCCAACAGTTGCAATCCCAAACATGTTTCTCCATACCC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-57505520-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505519
    reference: chr 11
allele count: 24099
allele frequency: 3.2704103788948e-1
allele num: 73688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+35delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+393delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+393delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.637delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+35delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+35delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+393delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+393delT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-293delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+35delT
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 5110
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 1018
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 3064
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.25e1
  variant carriers: 695
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 1394
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 1807
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 5658
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 4955
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 3039
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 564
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 414
genotype quality: GenotypeQuality
  all individuals: 12891
  bin: 2.5e0
  variant carriers: 1120
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 1415
num of homozygotes: 4
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CT
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-57505520-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505518
    reference: chr 11
allele count: 187
allele frequency: 2.537726631201824e-3
allele num: 73688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+34_*236+35delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+392_250+393delTT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+392_250+393delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+34_*93+35delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+392_250+393delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-294_251-293delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+392_250+393delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.636_637delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+34_364+35delTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+34_*93+35delTT
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 5.25e1
  variant carriers: 11
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: CTT
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-57505520-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505521
    reference: chr 11
allele count: 6298
allele frequency: 8.546846162197373e-2
allele num: 73688
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-293dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+393dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+393dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+35dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+35dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.637dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+393dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+35dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+35dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+393dupT
  variant of: http://identifiers.org/hgnc/41992
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 637
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 1707
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 1604
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 1297
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.25e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 891
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 1310
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 459
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
  variant carriers: 130
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

11-57505520-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505522
    reference: chr 11
allele count: 39
allele frequency: 5.292584952773857e-4
allele num: 73688
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+34_*93+35dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-294_251-293dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+34_364+35dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+392_250+393dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+392_250+393dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+392_250+393dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+34_*236+35dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+392_250+393dupTT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.636_637dupTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+34_*93+35dupTT
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 3.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-57505520-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505517
    reference: chr 11
allele count: 1
allele frequency: 1.35707306481381e-5
allele num: 73688
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12891
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7727
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6820
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7892
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3802
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.374620060790274e-5
  allele num: 42112
  num of homozygotes: 0
population: African
population: Other
population: East Asian
reference allele: CTTT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-57505524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505524
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505524
    reference: chr 11
allele count: 1
allele frequency: 8.790590551873274e-6
allele num: 113758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+26T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-302T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+384T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+26T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+384T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+384T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+26T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+26T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.628T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+384T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-57505525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505525
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505525
    reference: chr 11
allele count: 5
allele frequency: 4.399239811360597e-5
allele num: 113656
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+385T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+27T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+385T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213593
  ensembl transcript: ENST00000528042
  gene symbol: TMX2
  hgvsc: ENST00000528042.1:n.629T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*93+27T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.250+385T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.250+385T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*236+27T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.364+27T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-301T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

11-57505778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505778
    reference: chr 11
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+638T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+638T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-48T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+280T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-48T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-358T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-48T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-358T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-48T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

11-57505786-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505786
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505786
    reference: chr 11
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+646G>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-350G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+646G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-350G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+288G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-40G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-40G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-40G>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-40G>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-57505787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505787
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505787
    reference: chr 11
allele count: 6
allele frequency: 4.975619464623345e-5
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-39C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-349C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-39C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-39C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-39C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+647C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+289C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+647C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-349C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

11-57505795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505795
    reference: chr 11
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-31G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+655G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-31G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-341G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+297G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-341G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-31G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+655G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-31G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-57505800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505800
    reference: chr 11
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-336C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-26C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-26C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+660C>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+660C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-26C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-26C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-336C>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+302C>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-57505803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505803
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505803
    reference: chr 11
allele count: 12
allele frequency: 9.924573243350536e-5
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-333C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+305C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-23C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+663C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-333C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-23C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-23C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+663C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-23C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

11-57505804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505804
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505804
    reference: chr 11
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-22G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+664G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+664G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-22G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-22G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-332G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-332G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-22G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+306G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

11-57505807-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505804
    reference: chr 11
allele count: 4
allele frequency: 3.303328103063837e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-14_251-12delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+314_*93+316delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+672_250+674delCTT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-14_365-12delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-14_*94-12delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+672_250+674delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-324_251-322delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-14_*237-12delCTT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-324_251-322delCTT
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: ATCT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-57505814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505814
    reference: chr 11
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-322T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+674T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-322T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+674T>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*237-12T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.365-12T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*94-12T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*93+316T>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.251-12T>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51152
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-57505827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505827
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505827
    reference: chr 11
allele count: 30
allele frequency: 2.472839974282464e-4
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-309G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-309G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.366G>A
  hgvsp: ENST00000278422.4:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.252G>A
  hgvsp: ENSP00000367562.4:p.Met84Ile
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-309G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+687G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+687G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met84Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-57505838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505838
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505838
    reference: chr 11
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-298C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*249C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+698C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+698C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-298C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.263C>T
  hgvsp: ENSP00000367562.4:p.Thr88Met
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.377C>T
  hgvsp: ENSP00000278422.4:p.Thr126Met
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-298C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51154
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr126Met
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: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

11-57505839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505839
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505839
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.378G>A
  hgvsp: ENST00000278422.4:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-297G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.264G>A
  hgvsp: ENST00000378312.4:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+699G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-297G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*250G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-297G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+699G>A
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr126Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-57505842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505842
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505842
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.381C>T
  hgvsp: ENST00000278422.4:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-294C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+702C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.267C>T
  hgvsp: ENST00000378312.4:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-294C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-294C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*253C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+702C>T
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys127Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-57505845-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505845
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505845
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.384A>C
  hgvsp: ENSP00000278422.4:p.Lys128Asn
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-291A>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.270A>C
  hgvsp: ENSP00000367562.4:p.Lys90Asn
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-291A>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-291A>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+705A>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*113A>C
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+705A>C
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*256A>C
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys128Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-57505851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505851
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505851
    reference: chr 11
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.276C>G
  hgvsp: ENST00000378312.4:c.276C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+711C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.390C>G
  hgvsp: ENST00000278422.4:c.390C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-285C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+711C>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*262C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-285C>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-285C>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro130Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-57505852-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505852
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505851
    reference: chr 11
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-283delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-283delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+713delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*121delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+713delT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.278delT
  hgvsp: ENSP00000367562.4:p.Leu93HisfsTer20
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-283delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*264delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.392delT
  hgvsp: ENSP00000278422.4:p.Leu131HisfsTer20
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu131HisfsTer20
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: CT
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

11-57505856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505856
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505856
    reference: chr 11
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*267A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.395A>G
  hgvsp: ENSP00000278422.4:p.Tyr132Cys
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+716A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-280A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*124A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+716A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.281A>G
  hgvsp: ENSP00000367562.4:p.Tyr94Cys
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-280A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-280A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr132Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-57505858-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505858
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505858
    reference: chr 11
allele count: 42
allele frequency: 3.460036577529534e-4
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*126A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+718A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-278A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.397A>G
  hgvsp: ENSP00000278422.4:p.Met133Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*269A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.283A>G
  hgvsp: ENSP00000367562.4:p.Met95Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-278A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+718A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-278A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51166
  bin: 9.75e1
  variant carriers: 40
hgvs: p.Met133Val
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-57505863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505863
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505863
    reference: chr 11
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+723C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-273C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.402C>T
  hgvsp: ENST00000278422.4:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.288C>T
  hgvsp: ENST00000378312.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+723C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*131C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-273C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-273C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly134Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

11-57505864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505864
    reference: chr 11
allele count: 20
allele frequency: 1.647690761397901e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+724C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.289C>T
  hgvsp: ENSP00000367562.4:p.Pro97Ser
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.403C>T
  hgvsp: ENSP00000278422.4:p.Pro135Ser
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+724C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-272C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-272C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-272C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro135Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-57505869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505869
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505869
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-267G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.250+729G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.408G>A
  hgvsp: ENST00000278422.4:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-267G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.294G>A
  hgvsp: ENST00000378312.4:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+729G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*280G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-267G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu136Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

11-57505885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505885
    reference: chr 11
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*153A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-251A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-251A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*296A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.424A>G
  hgvsp: ENSP00000278422.4:p.Asn142Asp
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.310A>G
  hgvsp: ENSP00000367562.4:p.Asn104Asp
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-251A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+745A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-718A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn142Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-57505886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505886
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505886
    reference: chr 11
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-250A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.311A>G
  hgvsp: ENSP00000367562.4:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-717A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.425A>G
  hgvsp: ENSP00000278422.4:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-250A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*154A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000434002
  ensembl transcript: ENST00000533602
  gene symbol: TMX2
  hgvsc: ENST00000533602.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-250A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+746A>G
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn142Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-57505897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505897
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505897
    reference: chr 11
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-239A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-706A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.436A>G
  hgvsp: ENSP00000278422.4:p.Ile146Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+757A>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.322A>G
  hgvsp: ENSP00000367562.4:p.Ile108Val
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-239A>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-239A>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile146Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

11-57505912-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505912
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505911
    reference: chr 11
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+13delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+13delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+13delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-221delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-221delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-221delT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+775delT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-688delT
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: CT
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-57505912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505912
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505912
    reference: chr 11
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-224C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+10C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+772C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-224C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+10C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-691C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+10C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-224C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

11-57505916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505916
    reference: chr 11
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-220C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+14C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-220C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-220C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+14C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+14C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+776C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-687C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-57505920-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505920
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505920
    reference: chr 11
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-216T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-683T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+18T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-216T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-216T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+18T>G
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+780T>G
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+18T>G
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

11-57505925-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505925
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505926
    reference: chr 11
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+26dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+788dupT
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-208dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-208dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+26dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-208dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+26dupT
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-675dupT
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

11-57505937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505937
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505937
    reference: chr 11
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+35C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+35C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+35C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-199C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-666C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+797C>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-199C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-199C>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-57505947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57505947
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57505947
    reference: chr 11
allele count: 36
allele frequency: 2.977716752965309e-4
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*170+45G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.441+45G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-189G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-189G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.327+45G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-656G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-189G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+807G>A
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

11-57506086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57506086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57506086
    reference: chr 11
allele count: 11
allele frequency: 9.062000560196398e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.328-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-517C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*171-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.442-50C>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+946C>T
  variant of: http://identifiers.org/hgnc/41992
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

11-57506091-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57506091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57506091
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-45G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-512G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.442-45G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.328-45G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-45G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*171-45G>T
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+951G>T
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-45G>T
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-57506093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57506093
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 57506093
    reference: chr 11
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000278422
  ensembl transcript: ENST00000278422
  gene symbol: TMX2
  hgvsc: ENST00000278422.4:c.442-43G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437257
  ensembl transcript: ENST00000524972
  gene symbol: TMX2
  hgvsc: ENST00000524972.1:c.251-43G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254462
  ensembl protein: ENSP00000456881
  ensembl transcript: ENST00000528395
  gene symbol: TMX2-CTNND1
  hgvsc: ENST00000528395.1:c.250+953G>A
  variant of: http://identifiers.org/hgnc/41992
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000436013
  ensembl transcript: ENST00000530114
  gene symbol: TMX2
  hgvsc: ENST00000530114.1:c.251-510G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431333
  ensembl transcript: ENST00000528110
  gene symbol: TMX2
  hgvsc: ENST00000528110.1:c.251-43G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000367562
  ensembl transcript: ENST00000378312
  gene symbol: TMX2
  hgvsc: ENST00000378312.4:c.328-43G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000431695
  ensembl transcript: ENST00000525035
  gene symbol: TMX2
  hgvsc: ENST00000525035.1:c.*94-43G>A
  variant of: http://identifiers.org/hgnc/30739
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213593
  ensembl protein: ENSP00000437023
  ensembl transcript: ENST00000529403
  gene symbol: TMX2
  hgvsc: ENST00000529403.1:c.*171-43G>A
  variant of: http://identifiers.org/hgnc/30739
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.696809e6

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41027
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510345869204048e-5
allele num: 66210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

QD
type: SiteQuality
SIO_000300: 1.821e1

DP
type: SiteQuality
SIO_000300: 1.698545e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 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: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.699908e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

VQSLOD
type: SiteQuality
SIO_000300: -7.564e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 8.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.487e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.706399e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.002e1

VQSLOD
type: SiteQuality
SIO_000300: -5.324e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.384e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 41511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7238
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.807692307692308e-4
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.833e0

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 7.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.712337e6

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.337e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.238e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.713292e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

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

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.714188e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7275
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 1.714432e6

VQSLOD
type: SiteQuality
SIO_000300: -4.023e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.772e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.617e0

QD
type: SiteQuality
SIO_000300: 1.651e1

FS
type: SiteQuality
SIO_000300: 5.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

DP
type: SiteQuality
SIO_000300: 1.714469e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.857e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.729475100942127e-4
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

QD
type: SiteQuality
SIO_000300: 1.768e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 1.715247e6

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.45e0

MQ
type: SiteQuality
SIO_000300: 6.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

GenotypeQuality
all individuals: 7277
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

DP
type: SiteQuality
SIO_000300: 1.714754e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.409e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 9.317e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

GenotypeQuality
all individuals: 2698
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41612
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.714675e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.354e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

QD
type: SiteQuality
SIO_000300: 1.031e1

GenotypeQuality
all individuals: 41595
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.847380410022779e-4
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.189e0

DP
type: SiteQuality
SIO_000300: 1.716855e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.714374e6

MQRankSum
type: SiteQuality
SIO_000300: -1.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.09e1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 1.711559e6

MQ
type: SiteQuality
SIO_000300: 5.822e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 7.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.201e0

FS
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -2.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1654
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41372
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
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: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.63e-1

DP
type: SiteQuality
SIO_000300: 1.709958e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 7.54e0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 9.75e1
variant carriers: 200

GenotypeQuality
all individuals: 2330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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: 195
allele frequency: 1.875360646278131e-2
allele num: 10398
num of homozygotes: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.636e0

DP
type: SiteQuality
SIO_000300: 1.730509e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1659
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.7108e6

MQ
type: SiteQuality
SIO_000300: 5.851e1

FS
type: SiteQuality
SIO_000300: 1.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.277e0

VQSLOD
type: SiteQuality
SIO_000300: -1.706e0

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.588e0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 3.722e0

QD
type: SiteQuality
SIO_000300: 1.106e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.31e-2

DP
type: SiteQuality
SIO_000300: 1.709777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 2672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223690651003426e-4
allele num: 16344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
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: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

FS
type: SiteQuality
SIO_000300: 4.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 1.706891e6

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.7364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.704925e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: -1.426e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.413e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.702967e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
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: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

FS
type: SiteQuality
SIO_000300: 1.204e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.700761e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
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: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
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: 902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.881e0

DP
type: SiteQuality
SIO_000300: 1.682711e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39758
bin: 6.25e1
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: 16096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.680692e6

FS
type: SiteQuality
SIO_000300: 8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.266e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.519701618239789e-5
allele num: 66492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 3.838e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

DP
type: SiteQuality
SIO_000300: 1.676403e6

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38023
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 640
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

East Asian
type: Population
allele count: 51
allele frequency: 5.895953757225433e-3
allele num: 8650
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.661235e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 475
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 838
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35233
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 526
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1585
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.726337755254136e-4
allele num: 13418
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.271020727414939e-3
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.810743247362966e-4
allele num: 65604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 4.687e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 4.48e0

DP
type: SiteQuality
SIO_000300: 1.642444e6

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1149
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64628
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.551e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.779003e6

FS
type: SiteQuality
SIO_000300: 2.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
all individuals: 2530
bin: 3.75e1
variant carriers: 1435

GenotypeQuality
all individuals: 3336
bin: 1.25e1
variant carriers: 1321

GenotypeQuality
all individuals: 3347
bin: 2.25e1
variant carriers: 1346

GenotypeQuality
all individuals: 2210
bin: 4.75e1
variant carriers: 1429

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 995

GenotypeQuality
all individuals: 2386
bin: 4.25e1
variant carriers: 1421

GenotypeQuality
all individuals: 3781
bin: 7.5e0
variant carriers: 1219

GenotypeQuality
all individuals: 3050
bin: 1.75e1
variant carriers: 1338

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 941

GenotypeQuality
all individuals: 7727
bin: 9.75e1
variant carriers: 6672

GenotypeQuality
all individuals: 1907
bin: 5.75e1
variant carriers: 1326

GenotypeQuality
all individuals: 1509
bin: 6.75e1
variant carriers: 1073

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 687

GenotypeQuality
all individuals: 946
bin: 8.75e1
variant carriers: 766

GenotypeQuality
all individuals: 2771
bin: 3.25e1
variant carriers: 1503

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 912

GenotypeQuality
all individuals: 2023
bin: 5.25e1
variant carriers: 1336

GenotypeQuality
all individuals: 2556
bin: 6.25e1
variant carriers: 1207

Latino
type: Population
allele count: 2900
allele frequency: 3.674607197161683e-1
allele num: 7892
num of homozygotes: 0

South Asian
type: Population
allele count: 2359
allele frequency: 3.458944281524927e-1
allele num: 6820
num of homozygotes: 0

African
type: Population
allele count: 2201
allele frequency: 3.234861845972957e-1
allele num: 6804
num of homozygotes: 4

East Asian
type: Population
allele count: 1603
allele frequency: 2.798533519553073e-1
allele num: 5728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13925
allele frequency: 3.306658434650456e-1
allele num: 42112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 946
allele frequency: 2.488164124145187e-1
allele num: 3802
num of homozygotes: 0

Other
type: Population
allele count: 165
allele frequency: 3.113207547169811e-1
allele num: 530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.174705e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 3781
bin: 7.5e0
variant carriers: 49

GenotypeQuality
all individuals: 2979
bin: 2.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2530
bin: 3.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2210
bin: 4.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2386
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 12891
bin: 2.5e0
variant carriers: 40

GenotypeQuality
all individuals: 1907
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2771
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 3347
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2556
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7727
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 946
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3050
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1509
bin: 6.75e1
variant carriers: 13

East Asian
type: Population
allele count: 18
allele frequency: 3.142458100558659e-3
allele num: 5728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 117
allele frequency: 2.77830547112462e-3
allele num: 42112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.052077853761178e-3
allele num: 3802
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 2.49266862170088e-3
allele num: 6820
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 2.534211860111505e-3
allele num: 7892
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.616696061140506e-3
allele num: 6804
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

DP
type: SiteQuality
SIO_000300: 2.174705e6

GenotypeQuality
all individuals: 12891
bin: 2.5e0
variant carriers: 703

GenotypeQuality
all individuals: 3050
bin: 1.75e1
variant carriers: 691

GenotypeQuality
all individuals: 2979
bin: 2.75e1
variant carriers: 703

GenotypeQuality
all individuals: 3347
bin: 2.25e1
variant carriers: 736

GenotypeQuality
all individuals: 1907
bin: 5.75e1
variant carriers: 358

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 206

GenotypeQuality
all individuals: 3336
bin: 1.25e1
variant carriers: 676

GenotypeQuality
all individuals: 2556
bin: 6.25e1
variant carriers: 278

GenotypeQuality
all individuals: 2530
bin: 3.75e1
variant carriers: 522

GenotypeQuality
all individuals: 3781
bin: 7.5e0
variant carriers: 774

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 170

GenotypeQuality
all individuals: 1509
bin: 6.75e1
variant carriers: 209

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 181

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 105

GenotypeQuality
all individuals: 2771
bin: 3.25e1
variant carriers: 549

GenotypeQuality
all individuals: 2386
bin: 4.25e1
variant carriers: 522

GenotypeQuality
all individuals: 2023
bin: 5.25e1
variant carriers: 395

GenotypeQuality
all individuals: 7727
bin: 9.75e1
variant carriers: 903

East Asian
type: Population
allele count: 855
allele frequency: 1.492667597765363e-1
allele num: 5728
num of homozygotes: 0

Latino
type: Population
allele count: 637
allele frequency: 8.071464774455145e-2
allele num: 7892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 313
allele frequency: 8.232509205681221e-2
allele num: 3802
num of homozygotes: 0

South Asian
type: Population
allele count: 721
allele frequency: 1.057184750733138e-1
allele num: 6820
num of homozygotes: 1

African
type: Population
allele count: 580
allele frequency: 8.524397413286303e-2
allele num: 6804
num of homozygotes: 0

Other
type: Population
allele count: 50
allele frequency: 9.433962264150944e-2
allele num: 530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3142
allele frequency: 7.46105623100304e-2
allele num: 42112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.174705e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 2771
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 3050
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 12891
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7727
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2210
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2386
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1509
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2979
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2023
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3347
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 841
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 946
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 7
allele frequency: 1.026392961876833e-3
allele num: 6820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.469723691945914e-4
allele num: 6804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.630194634402946e-4
allele num: 3802
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.729050279329608e-4
allele num: 5728
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 8.869741510390269e-4
allele num: 7892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 4.274316109422492e-4
allele num: 42112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.174705e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

DP
type: SiteQuality
SIO_000300: 2.174705e6

GenotypeQuality
all individuals: 15741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10815
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.976057462090982e-5
allele num: 10024
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

FS
type: SiteQuality
SIO_000300: 1.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.876e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.372e0

DP
type: SiteQuality
SIO_000300: 2.10039e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 15368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10827
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1009
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547843853512058e-5
allele num: 64606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11640
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.995609658750748e-4
allele num: 10022
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.747030048916841e-4
allele num: 11448
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.09189e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.304e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 658
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 743
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51147
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

South Asian
type: Population
allele count: 1
allele frequency: 6.24687656171914e-5
allele num: 16008
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 3.908926e6

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 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: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
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: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.563e1

DP
type: SiteQuality
SIO_000300: 3.915622e6

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1041
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51149
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526040098741646e-5
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 3.917189e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.655e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 2.956e0

GenotypeQuality
all individuals: 693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
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: 16148
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.779e0

QD
type: SiteQuality
SIO_000300: 1.525e1

FS
type: SiteQuality
SIO_000300: 1.1497e1

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: -1.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 3.924114e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.201e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.993e1

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 3.928591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.328e0

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

FS
type: SiteQuality
SIO_000300: 6.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.253e0

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

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51151
bin: 9.75e1
variant carriers: 12

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

South Asian
type: Population
allele count: 5
allele frequency: 3.078059591233686e-4
allele num: 16244
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.73076923076923e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 1.425e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 3.932785e6

GenotypeQuality
all individuals: 4586
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 3.933781e6

QD
type: SiteQuality
SIO_000300: 1.319e1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51153
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 3.93654e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.344e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.671e1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 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: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.939209e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51154
bin: 9.75e1
variant carriers: 30

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.899337112690842e-4
allele num: 66678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.944687e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.245e1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.106e0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 1.836e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.641e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.399e0

DP
type: SiteQuality
SIO_000300: 3.942398e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 914
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.071e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.398e-1

DP
type: SiteQuality
SIO_000300: 3.942334e6

QD
type: SiteQuality
SIO_000300: 1.766e1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.52e0

MQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.94238e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.942829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5219
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51154
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 8654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 3.942986e6

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 929
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51154
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.495e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 3.943133e6

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.03e-1

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1046
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51153
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 3.943321e6

FS
type: SiteQuality
SIO_000300: 1.742e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

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

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5217
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.845498965796336e-4
allele num: 66718
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 3.947058e6

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51151
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
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: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.972e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 3.943447e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

GenotypeQuality
all individuals: 51153
bin: 9.75e1
variant carriers: 20

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

GenotypeQuality
all individuals: 673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5225
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 66714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.31107002542177e-3
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.101e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.112e1

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 3.946302e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5210
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 3.943452e6

FS
type: SiteQuality
SIO_000300: 1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.579e0

QD
type: SiteQuality
SIO_000300: 1.183e1

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

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51153
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 1.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 3.943372e6

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.943293e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
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: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

FS
type: SiteQuality
SIO_000300: 2.437e0

DP
type: SiteQuality
SIO_000300: 3.941793e6

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
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: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.936161e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 2.837e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51152
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.09e-1

FS
type: SiteQuality
SIO_000300: 2.837e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 3.936161e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
all individuals: 849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 3.969e0

MQRankSum
type: SiteQuality
SIO_000300: -1.295e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.136e0

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.934896e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

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

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 16382
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: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.931227e6

MQRankSum
type: SiteQuality
SIO_000300: -1.804e0

FS
type: SiteQuality
SIO_000300: 1.171e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.671e-1

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.993e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

FS
type: SiteQuality
SIO_000300: 3.384e0

DP
type: SiteQuality
SIO_000300: 3.928073e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.906e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 703
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.087e0

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 3.921962e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeQuality
all individuals: 51148
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.271676300578035e-3
allele num: 8650
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: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.54206760424377e-3
allele num: 16212
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.354e0

DP
type: SiteQuality
SIO_000300: 3.918672e6

GenotypeQuality
all individuals: 811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52838
bin: 9.75e1
variant carriers: 11

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 8648
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.057285659361784e-3
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.768e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.952e-1

DP
type: SiteQuality
SIO_000300: 3.780407e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.444e0

QD
type: SiteQuality
SIO_000300: 1.522e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

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

GenotypeQuality
all individuals: 1348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.937e0

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.779e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

FS
type: SiteQuality
SIO_000300: 7.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

DP
type: SiteQuality
SIO_000300: 3.781405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1