7-139661755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661755
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661755
    reference: chr 7
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.857G>A
  hgvsp: ENSP00000411326.1:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.828G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.998G>A
  hgvsp: ENSP00000389414.2:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.860G>A
  hgvsp: ENSP00000392702.2:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.860G>A
  hgvsp: ENSP00000392361.2:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.656G>A
  hgvsp: ENSP00000388736.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.995G>A
  hgvsp: ENSP00000411274.1:p.Arg332Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*646G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.860G>A
  hgvsp: ENSP00000263552.6:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.857G>A
  hgvsp: ENSP00000402536.1:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.222G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.857G>A
  hgvsp: ENSP00000338087.5:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.340G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg333Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-139661773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661773
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661773
    reference: chr 7
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*664T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1016T>C
  hgvsp: ENSP00000389414.2:p.Met339Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.846T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.875T>C
  hgvsp: ENSP00000338087.5:p.Met292Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.240T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.674T>C
  hgvsp: ENSP00000388736.1:p.Met225Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.875T>C
  hgvsp: ENSP00000402536.1:p.Met292Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.878T>C
  hgvsp: ENSP00000392361.2:p.Met293Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.358T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.878T>C
  hgvsp: ENSP00000392702.2:p.Met293Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.878T>C
  hgvsp: ENSP00000263552.6:p.Met293Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1013T>C
  hgvsp: ENSP00000411274.1:p.Met338Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.875T>C
  hgvsp: ENSP00000411326.1:p.Met292Thr
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met339Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-139661774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661774
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661774
    reference: chr 7
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.879G>A
  hgvsp: ENSP00000263552.6:p.Met293Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*665G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.359G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.879G>A
  hgvsp: ENSP00000392361.2:p.Met293Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1017G>A
  hgvsp: ENSP00000389414.2:p.Met339Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.876G>A
  hgvsp: ENSP00000411326.1:p.Met292Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.847G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.675G>A
  hgvsp: ENSP00000388736.1:p.Met225Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.879G>A
  hgvsp: ENSP00000392702.2:p.Met293Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.876G>A
  hgvsp: ENSP00000402536.1:p.Met292Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1014G>A
  hgvsp: ENSP00000411274.1:p.Met338Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.241G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.876G>A
  hgvsp: ENSP00000338087.5:p.Met292Ile
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met339Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-139661775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661775
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661775
    reference: chr 7
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.877G>C
  hgvsp: ENSP00000402536.1:p.Gly293Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.848G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.880G>C
  hgvsp: ENSP00000392361.2:p.Gly294Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.360G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.880G>C
  hgvsp: ENSP00000392702.2:p.Gly294Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.880G>C
  hgvsp: ENSP00000263552.6:p.Gly294Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.877G>C
  hgvsp: ENSP00000338087.5:p.Gly293Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1015G>C
  hgvsp: ENSP00000411274.1:p.Gly339Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1018G>C
  hgvsp: ENSP00000389414.2:p.Gly340Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.242G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.877G>C
  hgvsp: ENSP00000411326.1:p.Gly293Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.676G>C
  hgvsp: ENSP00000388736.1:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*666G>C
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly340Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

7-139661776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661776
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661776
    reference: chr 7
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.881G>A
  hgvsp: ENSP00000263552.6:p.Gly294Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.878G>A
  hgvsp: ENSP00000411326.1:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.361G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1016G>A
  hgvsp: ENSP00000411274.1:p.Gly339Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*667G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.243G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.881G>A
  hgvsp: ENSP00000392702.2:p.Gly294Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.878G>A
  hgvsp: ENSP00000338087.5:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1019G>A
  hgvsp: ENSP00000389414.2:p.Gly340Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.849G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.878G>A
  hgvsp: ENSP00000402536.1:p.Gly293Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.881G>A
  hgvsp: ENSP00000392361.2:p.Gly294Asp
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.677G>A
  hgvsp: ENSP00000388736.1:p.Gly226Asp
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly340Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-139661777-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661777
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661777
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.678C>A
  hgvsp: ENST00000425687.1:c.678C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.244C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.879C>A
  hgvsp: ENST00000448866.1:c.879C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1017C>A
  hgvsp: ENST00000458722.1:c.1017C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1020C>A
  hgvsp: ENST00000416849.2:c.1020C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.882C>A
  hgvsp: ENST00000263552.6:c.882C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.879C>A
  hgvsp: ENST00000411653.1:c.879C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.882C>A
  hgvsp: ENST00000436047.2:c.882C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.882C>A
  hgvsp: ENST00000414508.2:c.882C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*668C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.362C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.850C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.879C>A
  hgvsp: ENST00000336425.5:c.879C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly340Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-139661777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661777
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661777
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.362C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1017C>T
  hgvsp: ENST00000458722.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*668C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.879C>T
  hgvsp: ENST00000448866.1:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.882C>T
  hgvsp: ENST00000436047.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.244C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.879C>T
  hgvsp: ENST00000336425.5:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.879C>T
  hgvsp: ENST00000411653.1:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1020C>T
  hgvsp: ENST00000416849.2:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.882C>T
  hgvsp: ENST00000414508.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.850C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.882C>T
  hgvsp: ENST00000263552.6:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.678C>T
  hgvsp: ENST00000425687.1:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly340Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-139661778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661778
    reference: chr 7
allele count: 642
allele frequency: 5.288738775846446e-3
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.363G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*669G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.880G>A
  hgvsp: ENSP00000338087.5:p.Val294Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1018G>A
  hgvsp: ENSP00000411274.1:p.Val340Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.883G>A
  hgvsp: ENSP00000263552.6:p.Val295Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.880G>A
  hgvsp: ENSP00000402536.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.883G>A
  hgvsp: ENSP00000392361.2:p.Val295Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.679G>A
  hgvsp: ENSP00000388736.1:p.Val227Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1021G>A
  hgvsp: ENSP00000389414.2:p.Val341Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.883G>A
  hgvsp: ENSP00000392702.2:p.Val295Met
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.245G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.851G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.880G>A
  hgvsp: ENSP00000411326.1:p.Val294Met
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 26173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
hgvs: p.Val341Met
num of homozygotes: 20
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-139661778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661778
    reference: chr 7
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.880G>T
  hgvsp: ENSP00000338087.5:p.Val294Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.363G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1021G>T
  hgvsp: ENSP00000389414.2:p.Val341Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1018G>T
  hgvsp: ENSP00000411274.1:p.Val340Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.883G>T
  hgvsp: ENSP00000392361.2:p.Val295Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.245G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.880G>T
  hgvsp: ENSP00000411326.1:p.Val294Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.679G>T
  hgvsp: ENSP00000388736.1:p.Val227Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*669G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.883G>T
  hgvsp: ENSP00000263552.6:p.Val295Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.851G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.883G>T
  hgvsp: ENSP00000392702.2:p.Val295Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.880G>T
  hgvsp: ENSP00000402536.1:p.Val294Leu
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val341Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

7-139661784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661784
    reference: chr 7
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.857G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*675G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.369G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1024G>A
  hgvsp: ENSP00000411274.1:p.Asp342Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.251G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1027G>A
  hgvsp: ENSP00000389414.2:p.Asp343Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.886G>A
  hgvsp: ENSP00000338087.5:p.Asp296Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.889G>A
  hgvsp: ENSP00000392361.2:p.Asp297Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.685G>A
  hgvsp: ENSP00000388736.1:p.Asp229Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.889G>A
  hgvsp: ENSP00000392702.2:p.Asp297Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.886G>A
  hgvsp: ENSP00000402536.1:p.Asp296Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.889G>A
  hgvsp: ENSP00000263552.6:p.Asp297Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.886G>A
  hgvsp: ENSP00000411326.1:p.Asp296Asn
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp343Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-139661792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661792
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*683C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.259C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.693C>T
  hgvsp: ENST00000425687.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.894C>T
  hgvsp: ENST00000336425.5:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.897C>T
  hgvsp: ENST00000414508.2:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.897C>T
  hgvsp: ENST00000263552.6:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.894C>T
  hgvsp: ENST00000448866.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1035C>T
  hgvsp: ENST00000416849.2:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.897C>T
  hgvsp: ENST00000436047.2:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.377C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1032C>T
  hgvsp: ENST00000458722.1:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.865C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.894C>T
  hgvsp: ENST00000411653.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp345Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-139661796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661796
    reference: chr 7
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.901G>A
  hgvsp: ENSP00000392702.2:p.Val301Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.898G>A
  hgvsp: ENSP00000402536.1:p.Val300Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.898G>A
  hgvsp: ENSP00000411326.1:p.Val300Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1036G>A
  hgvsp: ENSP00000411274.1:p.Val346Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.263G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*687G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.898G>A
  hgvsp: ENSP00000338087.5:p.Val300Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.901G>A
  hgvsp: ENSP00000392361.2:p.Val301Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.381G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1039G>A
  hgvsp: ENSP00000389414.2:p.Val347Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.869G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.901G>A
  hgvsp: ENSP00000263552.6:p.Val301Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.697G>A
  hgvsp: ENSP00000388736.1:p.Val233Ile
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val347Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-139661802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661802
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661802
    reference: chr 7
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.387G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1045G>A
  hgvsp: ENSP00000389414.2:p.Asp349Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.269G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.907G>A
  hgvsp: ENSP00000392361.2:p.Asp303Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1042G>A
  hgvsp: ENSP00000411274.1:p.Asp348Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.904G>A
  hgvsp: ENSP00000411326.1:p.Asp302Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*693G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.703G>A
  hgvsp: ENSP00000388736.1:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.904G>A
  hgvsp: ENSP00000402536.1:p.Asp302Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.907G>A
  hgvsp: ENSP00000392702.2:p.Asp303Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.904G>A
  hgvsp: ENSP00000338087.5:p.Asp302Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.907G>A
  hgvsp: ENSP00000263552.6:p.Asp303Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.875G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp349Asn
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-139661804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661804
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661804
    reference: chr 7
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.389C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.906C>T
  hgvsp: ENST00000336425.5:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1047C>T
  hgvsp: ENST00000416849.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.909C>T
  hgvsp: ENST00000436047.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.705C>T
  hgvsp: ENST00000425687.1:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.909C>T
  hgvsp: ENST00000263552.6:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.909C>T
  hgvsp: ENST00000414508.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*695C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.906C>T
  hgvsp: ENST00000448866.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1044C>T
  hgvsp: ENST00000458722.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.906C>T
  hgvsp: ENST00000411653.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.877C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.271C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp349Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-139661805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661805
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661805
    reference: chr 7
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.907G>A
  hgvsp: ENSP00000411326.1:p.Val303Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.878G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.272G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.910G>A
  hgvsp: ENSP00000392702.2:p.Val304Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.910G>A
  hgvsp: ENSP00000392361.2:p.Val304Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1045G>A
  hgvsp: ENSP00000411274.1:p.Val349Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.910G>A
  hgvsp: ENSP00000263552.6:p.Val304Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.907G>A
  hgvsp: ENSP00000338087.5:p.Val303Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.706G>A
  hgvsp: ENSP00000388736.1:p.Val236Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.390G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1048G>A
  hgvsp: ENSP00000389414.2:p.Val350Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*696G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.907G>A
  hgvsp: ENSP00000402536.1:p.Val303Ile
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val350Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

7-139661817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661817
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661817
    reference: chr 7
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.922A>G
  hgvsp: ENSP00000392702.2:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.919A>G
  hgvsp: ENSP00000411326.1:p.Thr307Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1057A>G
  hgvsp: ENSP00000411274.1:p.Thr353Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.922A>G
  hgvsp: ENSP00000263552.6:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.922A>G
  hgvsp: ENSP00000392361.2:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.890A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1060A>G
  hgvsp: ENSP00000389414.2:p.Thr354Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.718A>G
  hgvsp: ENSP00000388736.1:p.Thr240Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.919A>G
  hgvsp: ENSP00000338087.5:p.Thr307Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.284A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.919A>G
  hgvsp: ENSP00000402536.1:p.Thr307Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*708A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.402A>G
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr354Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

7-139661826-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661826
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661826
    reference: chr 7
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1069A>G
  hgvsp: ENSP00000389414.2:p.Lys357Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.928A>G
  hgvsp: ENSP00000411326.1:p.Lys310Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.928A>G
  hgvsp: ENSP00000338087.5:p.Lys310Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.931A>G
  hgvsp: ENSP00000392702.2:p.Lys311Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.931A>G
  hgvsp: ENSP00000392361.2:p.Lys311Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1066A>G
  hgvsp: ENSP00000411274.1:p.Lys356Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.931A>G
  hgvsp: ENSP00000263552.6:p.Lys311Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.899A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.411A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.928A>G
  hgvsp: ENSP00000402536.1:p.Lys310Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*717A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.293A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.727A>G
  hgvsp: ENSP00000388736.1:p.Lys243Glu
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys357Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-139661827-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661827
    reference: chr 7
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.294A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.412A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.932A>C
  hgvsp: ENSP00000392702.2:p.Lys311Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1070A>C
  hgvsp: ENSP00000389414.2:p.Lys357Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1067A>C
  hgvsp: ENSP00000411274.1:p.Lys356Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.932A>C
  hgvsp: ENSP00000263552.6:p.Lys311Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.900A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.929A>C
  hgvsp: ENSP00000411326.1:p.Lys310Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.932A>C
  hgvsp: ENSP00000392361.2:p.Lys311Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.728A>C
  hgvsp: ENSP00000388736.1:p.Lys243Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.929A>C
  hgvsp: ENSP00000338087.5:p.Lys310Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*718A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.929A>C
  hgvsp: ENSP00000402536.1:p.Lys310Thr
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys357Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

7-139661830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661830
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661830
    reference: chr 7
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.415C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.731C>G
  hgvsp: ENSP00000388736.1:p.Pro244Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.935C>G
  hgvsp: ENSP00000392361.2:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.297C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.932C>G
  hgvsp: ENSP00000402536.1:p.Pro311Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1073C>G
  hgvsp: ENSP00000389414.2:p.Pro358Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.932C>G
  hgvsp: ENSP00000411326.1:p.Pro311Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.935C>G
  hgvsp: ENSP00000263552.6:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.935C>G
  hgvsp: ENSP00000392702.2:p.Pro312Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1070C>G
  hgvsp: ENSP00000411274.1:p.Pro357Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.903C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.932C>G
  hgvsp: ENSP00000338087.5:p.Pro311Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*721C>G
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro358Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

7-139661830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661830
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661830
    reference: chr 7
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*721C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.935C>T
  hgvsp: ENSP00000392361.2:p.Pro312Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.731C>T
  hgvsp: ENSP00000388736.1:p.Pro244Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.415C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1070C>T
  hgvsp: ENSP00000411274.1:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.903C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.932C>T
  hgvsp: ENSP00000338087.5:p.Pro311Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.932C>T
  hgvsp: ENSP00000411326.1:p.Pro311Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.935C>T
  hgvsp: ENSP00000392702.2:p.Pro312Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1073C>T
  hgvsp: ENSP00000389414.2:p.Pro358Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.935C>T
  hgvsp: ENSP00000263552.6:p.Pro312Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.932C>T
  hgvsp: ENSP00000402536.1:p.Pro311Leu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.297C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro358Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-139661831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661831
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661831
    reference: chr 7
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.732G>A
  hgvsp: ENST00000425687.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.936G>A
  hgvsp: ENST00000414508.2:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.933G>A
  hgvsp: ENST00000411653.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.936G>A
  hgvsp: ENST00000263552.6:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1074G>A
  hgvsp: ENST00000416849.2:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.933G>A
  hgvsp: ENST00000448866.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.904G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.416G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.936G>A
  hgvsp: ENST00000436047.2:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.298G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.933G>A
  hgvsp: ENST00000336425.5:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1071G>A
  hgvsp: ENST00000458722.1:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*722G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro358Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

7-139661842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661842
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661842
    reference: chr 7
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*733G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.743G>A
  hgvsp: ENSP00000388736.1:p.Arg248Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.427G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.944G>A
  hgvsp: ENSP00000338087.5:p.Arg315Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.944G>A
  hgvsp: ENSP00000411326.1:p.Arg315Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.915G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1085G>A
  hgvsp: ENSP00000389414.2:p.Arg362Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1082G>A
  hgvsp: ENSP00000411274.1:p.Arg361Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.309G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.944G>A
  hgvsp: ENSP00000402536.1:p.Arg315Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.947G>A
  hgvsp: ENSP00000392702.2:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.947G>A
  hgvsp: ENSP00000263552.6:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.947G>A
  hgvsp: ENSP00000392361.2:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg362Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-139661845-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661845
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661843
    reference: chr 7
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1091_1092delAC
  hgvsp: ENSP00000389414.2:p.His364ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.950_951delAC
  hgvsp: ENSP00000338087.5:p.His317ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.749_750delAC
  hgvsp: ENSP00000388736.1:p.His250ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.315_316delAC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.950_951delAC
  hgvsp: ENSP00000411326.1:p.His317ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*739_*740delAC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.953_954delAC
  hgvsp: ENSP00000263552.6:p.His318ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.921_922delAC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.953_954delAC
  hgvsp: ENSP00000392702.2:p.His318ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.953_954delAC
  hgvsp: ENSP00000392361.2:p.His318ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.950_951delAC
  hgvsp: ENSP00000402536.1:p.His317ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1088_1089delAC
  hgvsp: ENSP00000411274.1:p.His363ProfsTer13
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.433_434delAC
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His364ProfsTer13
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: AAC
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-139661848-A-ACCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661853
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: ACCAGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.958_962dupAGCCC
  hgvsp: ENSP00000338087.5:p.Met322AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.961_965dupAGCCC
  hgvsp: ENSP00000392702.2:p.Met323AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.961_965dupAGCCC
  hgvsp: ENSP00000263552.6:p.Met323AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.958_962dupAGCCC
  hgvsp: ENSP00000402536.1:p.Met322AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1099_1103dupAGCCC
  hgvsp: ENSP00000389414.2:p.Met369AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.441_445dupAGCCC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.958_962dupAGCCC
  hgvsp: ENSP00000411326.1:p.Met322AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.757_761dupAGCCC
  hgvsp: ENSP00000388736.1:p.Met255AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.961_965dupAGCCC
  hgvsp: ENSP00000392361.2:p.Met323AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.323_327dupAGCCC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1096_1100dupAGCCC
  hgvsp: ENSP00000411274.1:p.Met368AlafsTer7
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.929_933dupAGCCC
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*747_*751dupAGCCC
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met369AlafsTer7
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-139661849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661849
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661849
    reference: chr 7
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.954C>T
  hgvsp: ENST00000436047.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.434C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.951C>T
  hgvsp: ENST00000411653.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1089C>T
  hgvsp: ENST00000458722.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.922C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1092C>T
  hgvsp: ENST00000416849.2:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.954C>T
  hgvsp: ENST00000263552.6:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.954C>T
  hgvsp: ENST00000414508.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.951C>T
  hgvsp: ENST00000448866.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.750C>T
  hgvsp: ENST00000425687.1:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.316C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.951C>T
  hgvsp: ENST00000336425.5:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*740C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His364His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

7-139661850-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661850
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661850
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.751C>G
  hgvsp: ENSP00000388736.1:p.Gln251Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.955C>G
  hgvsp: ENSP00000263552.6:p.Gln319Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1090C>G
  hgvsp: ENSP00000411274.1:p.Gln364Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.952C>G
  hgvsp: ENSP00000402536.1:p.Gln318Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.952C>G
  hgvsp: ENSP00000411326.1:p.Gln318Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.955C>G
  hgvsp: ENSP00000392361.2:p.Gln319Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.435C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.952C>G
  hgvsp: ENSP00000338087.5:p.Gln318Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*741C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1093C>G
  hgvsp: ENSP00000389414.2:p.Gln365Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.923C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.955C>G
  hgvsp: ENSP00000392702.2:p.Gln319Glu
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.317C>G
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln365Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

7-139661854-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661854
    reference: chr 7
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1094C>G
  hgvsp: ENSP00000411274.1:p.Pro365Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1097C>G
  hgvsp: ENSP00000389414.2:p.Pro366Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.927C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.956C>G
  hgvsp: ENSP00000338087.5:p.Pro319Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.321C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*745C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.956C>G
  hgvsp: ENSP00000402536.1:p.Pro319Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.959C>G
  hgvsp: ENSP00000392361.2:p.Pro320Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.439C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.956C>G
  hgvsp: ENSP00000411326.1:p.Pro319Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.959C>G
  hgvsp: ENSP00000263552.6:p.Pro320Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.959C>G
  hgvsp: ENSP00000392702.2:p.Pro320Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.755C>G
  hgvsp: ENSP00000388736.1:p.Pro252Arg
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro366Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

7-139661859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661859
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661859
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.760C>T
  hgvsp: ENSP00000388736.1:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.964C>T
  hgvsp: ENSP00000392361.2:p.Pro322Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.326C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.961C>T
  hgvsp: ENSP00000402536.1:p.Pro321Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.961C>T
  hgvsp: ENSP00000338087.5:p.Pro321Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1102C>T
  hgvsp: ENSP00000389414.2:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.964C>T
  hgvsp: ENSP00000392702.2:p.Pro322Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.961C>T
  hgvsp: ENSP00000411326.1:p.Pro321Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.444C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*750C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.932C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.964C>T
  hgvsp: ENSP00000263552.6:p.Pro322Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1099C>T
  hgvsp: ENSP00000411274.1:p.Pro367Ser
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro368Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

7-139661860-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661860
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.962C>G
  hgvsp: ENSP00000402536.1:p.Pro321Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.962C>G
  hgvsp: ENSP00000338087.5:p.Pro321Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.965C>G
  hgvsp: ENSP00000392361.2:p.Pro322Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1100C>G
  hgvsp: ENSP00000411274.1:p.Pro367Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.327C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.445C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.761C>G
  hgvsp: ENSP00000388736.1:p.Pro254Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.965C>G
  hgvsp: ENSP00000392702.2:p.Pro322Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.965C>G
  hgvsp: ENSP00000263552.6:p.Pro322Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.962C>G
  hgvsp: ENSP00000411326.1:p.Pro321Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1103C>G
  hgvsp: ENSP00000389414.2:p.Pro368Arg
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*751C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.933C>G
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro368Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

7-139661862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661862
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661862
    reference: chr 7
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.964A>G
  hgvsp: ENSP00000411326.1:p.Met322Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*753A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.763A>G
  hgvsp: ENSP00000388736.1:p.Met255Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1105A>G
  hgvsp: ENSP00000389414.2:p.Met369Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.935A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1102A>G
  hgvsp: ENSP00000411274.1:p.Met368Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.967A>G
  hgvsp: ENSP00000392361.2:p.Met323Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.447A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.967A>G
  hgvsp: ENSP00000263552.6:p.Met323Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.964A>G
  hgvsp: ENSP00000338087.5:p.Met322Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.967A>G
  hgvsp: ENSP00000392702.2:p.Met323Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.329A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.964A>G
  hgvsp: ENSP00000402536.1:p.Met322Val
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met369Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

7-139661863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661863
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661863
    reference: chr 7
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.968T>C
  hgvsp: ENSP00000263552.6:p.Met323Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.968T>C
  hgvsp: ENSP00000392702.2:p.Met323Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.965T>C
  hgvsp: ENSP00000411326.1:p.Met322Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1103T>C
  hgvsp: ENSP00000411274.1:p.Met368Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.965T>C
  hgvsp: ENSP00000402536.1:p.Met322Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.936T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.448T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.965T>C
  hgvsp: ENSP00000338087.5:p.Met322Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.968T>C
  hgvsp: ENSP00000392361.2:p.Met323Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1106T>C
  hgvsp: ENSP00000389414.2:p.Met369Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*754T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.764T>C
  hgvsp: ENSP00000388736.1:p.Met255Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.330T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met369Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-139661865-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661865
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661865
    reference: chr 7
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.967G>C
  hgvsp: ENSP00000402536.1:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*756G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.970G>C
  hgvsp: ENSP00000263552.6:p.Ala324Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.766G>C
  hgvsp: ENSP00000388736.1:p.Ala256Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.332G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.970G>C
  hgvsp: ENSP00000392361.2:p.Ala324Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.967G>C
  hgvsp: ENSP00000411326.1:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.938G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1105G>C
  hgvsp: ENSP00000411274.1:p.Ala369Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.970G>C
  hgvsp: ENSP00000392702.2:p.Ala324Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1108G>C
  hgvsp: ENSP00000389414.2:p.Ala370Pro
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.450G>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.967G>C
  hgvsp: ENSP00000338087.5:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala370Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

7-139661876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661876
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661876
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.981G>A
  hgvsp: ENST00000436047.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.949G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.981G>A
  hgvsp: ENST00000263552.6:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.978G>A
  hgvsp: ENST00000336425.5:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.777G>A
  hgvsp: ENST00000425687.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.978G>A
  hgvsp: ENST00000448866.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.461G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1119G>A
  hgvsp: ENST00000416849.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1116G>A
  hgvsp: ENST00000458722.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.981G>A
  hgvsp: ENST00000414508.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*767G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.978G>A
  hgvsp: ENST00000411653.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.343G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu373Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-139661889-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661889
    reference: chr 7
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1132A>T
  hgvsp: ENSP00000389414.2:p.Ile378Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.991A>T
  hgvsp: ENSP00000402536.1:p.Ile331Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.356A>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.474A>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.991A>T
  hgvsp: ENSP00000338087.5:p.Ile331Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.994A>T
  hgvsp: ENSP00000263552.6:p.Ile332Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.962A>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1129A>T
  hgvsp: ENSP00000411274.1:p.Ile377Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*780A>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.994A>T
  hgvsp: ENSP00000392702.2:p.Ile332Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.994A>T
  hgvsp: ENSP00000392361.2:p.Ile332Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.991A>T
  hgvsp: ENSP00000411326.1:p.Ile331Phe
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.790A>T
  hgvsp: ENSP00000388736.1:p.Ile264Phe
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile378Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-139661890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661890
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661890
    reference: chr 7
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.995T>C
  hgvsp: ENSP00000263552.6:p.Ile332Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.992T>C
  hgvsp: ENSP00000411326.1:p.Ile331Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*781T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.963T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1130T>C
  hgvsp: ENSP00000411274.1:p.Ile377Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.995T>C
  hgvsp: ENSP00000392702.2:p.Ile332Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.995T>C
  hgvsp: ENSP00000392361.2:p.Ile332Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.992T>C
  hgvsp: ENSP00000402536.1:p.Ile331Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1133T>C
  hgvsp: ENSP00000389414.2:p.Ile378Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.992T>C
  hgvsp: ENSP00000338087.5:p.Ile331Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.475T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.357T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.791T>C
  hgvsp: ENSP00000388736.1:p.Ile264Thr
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile378Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

7-139661896-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661896
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1001G>T
  hgvsp: ENSP00000263552.6:p.Gly334Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*787G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.998G>T
  hgvsp: ENSP00000411326.1:p.Gly333Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1001G>T
  hgvsp: ENSP00000392361.2:p.Gly334Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1136G>T
  hgvsp: ENSP00000411274.1:p.Gly379Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.998G>T
  hgvsp: ENSP00000338087.5:p.Gly333Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.969G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.998G>T
  hgvsp: ENSP00000402536.1:p.Gly333Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.797G>T
  hgvsp: ENSP00000388736.1:p.Gly266Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1001G>T
  hgvsp: ENSP00000392702.2:p.Gly334Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1139G>T
  hgvsp: ENSP00000389414.2:p.Gly380Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.363G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.481G>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly380Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-139661897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661897
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661897
    reference: chr 7
allele count: 129
allele frequency: 1.062935680031641e-3
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.798C>T
  hgvsp: ENST00000425687.1:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*788C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.482C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.999C>T
  hgvsp: ENST00000448866.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1140C>T
  hgvsp: ENST00000416849.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1002C>T
  hgvsp: ENST00000436047.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.364C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1137C>T
  hgvsp: ENST00000458722.1:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.999C>T
  hgvsp: ENST00000336425.5:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1002C>T
  hgvsp: ENST00000414508.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1002C>T
  hgvsp: ENST00000263552.6:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.970C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.999C>T
  hgvsp: ENST00000411653.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 24489
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly380Gly
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

7-139661901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661901
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661901
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1141G>A
  hgvsp: ENSP00000411274.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1006G>A
  hgvsp: ENSP00000392702.2:p.Ala336Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.486G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1144G>A
  hgvsp: ENSP00000389414.2:p.Ala382Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1003G>A
  hgvsp: ENSP00000402536.1:p.Ala335Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.802G>A
  hgvsp: ENSP00000388736.1:p.Ala268Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1006G>A
  hgvsp: ENSP00000263552.6:p.Ala336Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.974G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.368G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1003G>A
  hgvsp: ENSP00000338087.5:p.Ala335Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1006G>A
  hgvsp: ENSP00000392361.2:p.Ala336Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1003G>A
  hgvsp: ENSP00000411326.1:p.Ala335Thr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*792G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala382Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

7-139661918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661918
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661918
    reference: chr 7
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.385C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1023C>T
  hgvsp: ENST00000436047.2:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1023C>T
  hgvsp: ENST00000263552.6:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1020C>T
  hgvsp: ENST00000336425.5:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1020C>T
  hgvsp: ENST00000411653.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1158C>T
  hgvsp: ENST00000458722.1:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1161C>T
  hgvsp: ENST00000416849.2:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*809C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1023C>T
  hgvsp: ENST00000414508.2:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.819C>T
  hgvsp: ENST00000425687.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.503C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1020C>T
  hgvsp: ENST00000448866.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.991C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile387Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

7-139661920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661920
    reference: chr 7
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1025C>T
  hgvsp: ENSP00000392361.2:p.Ala342Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1022C>T
  hgvsp: ENSP00000402536.1:p.Ala341Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.821C>T
  hgvsp: ENSP00000388736.1:p.Ala274Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1025C>T
  hgvsp: ENSP00000392702.2:p.Ala342Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1160C>T
  hgvsp: ENSP00000411274.1:p.Ala387Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.387C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.505C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1025C>T
  hgvsp: ENSP00000263552.6:p.Ala342Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1022C>T
  hgvsp: ENSP00000411326.1:p.Ala341Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*811C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1163C>T
  hgvsp: ENSP00000389414.2:p.Ala388Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1022C>T
  hgvsp: ENSP00000338087.5:p.Ala341Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.993C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala388Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-139661927-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661927
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661927
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1000T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1032T>C
  hgvsp: ENST00000414508.2:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1167T>C
  hgvsp: ENST00000458722.1:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*818T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1032T>C
  hgvsp: ENST00000436047.2:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.828T>C
  hgvsp: ENST00000425687.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1029T>C
  hgvsp: ENST00000336425.5:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1029T>C
  hgvsp: ENST00000448866.1:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1170T>C
  hgvsp: ENST00000416849.2:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1032T>C
  hgvsp: ENST00000263552.6:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1029T>C
  hgvsp: ENST00000411653.1:c.1029T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.512T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.394T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr390Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

7-139661938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661938
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661938
    reference: chr 7
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1043C>T
  hgvsp: ENSP00000392702.2:p.Thr348Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1043C>T
  hgvsp: ENSP00000392361.2:p.Thr348Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.523C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*829C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.405C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1011C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1040C>T
  hgvsp: ENSP00000402536.1:p.Thr347Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1181C>T
  hgvsp: ENSP00000389414.2:p.Thr394Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.839C>T
  hgvsp: ENSP00000388736.1:p.Thr280Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1040C>T
  hgvsp: ENSP00000338087.5:p.Thr347Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1040C>T
  hgvsp: ENSP00000411326.1:p.Thr347Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1043C>T
  hgvsp: ENSP00000263552.6:p.Thr348Ile
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1178C>T
  hgvsp: ENSP00000411274.1:p.Thr393Ile
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr394Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-139661955-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661955
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661955
    reference: chr 7
allele count: 14
allele frequency: 1.153364529097739e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1028G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1057G>T
  hgvsp: ENSP00000402536.1:p.Ala353Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.422G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1057G>T
  hgvsp: ENSP00000411326.1:p.Ala353Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1195G>T
  hgvsp: ENSP00000411274.1:p.Ala399Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1060G>T
  hgvsp: ENSP00000392702.2:p.Ala354Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1198G>T
  hgvsp: ENSP00000389414.2:p.Ala400Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*846G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1057G>T
  hgvsp: ENSP00000338087.5:p.Ala353Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1060G>T
  hgvsp: ENSP00000392361.2:p.Ala354Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.856G>T
  hgvsp: ENSP00000388736.1:p.Ala286Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1060G>T
  hgvsp: ENSP00000263552.6:p.Ala354Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.540G>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala400Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-139661959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661959
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661959
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1064C>G
  hgvsp: ENSP00000392702.2:p.Thr355Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*850C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.860C>G
  hgvsp: ENSP00000388736.1:p.Thr287Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1064C>G
  hgvsp: ENSP00000263552.6:p.Thr355Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1199C>G
  hgvsp: ENSP00000411274.1:p.Thr400Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1061C>G
  hgvsp: ENSP00000411326.1:p.Thr354Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.426C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1202C>G
  hgvsp: ENSP00000389414.2:p.Thr401Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1032C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1064C>G
  hgvsp: ENSP00000392361.2:p.Thr355Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1061C>G
  hgvsp: ENSP00000338087.5:p.Thr354Ser
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.544C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1061C>G
  hgvsp: ENSP00000402536.1:p.Thr354Ser
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr401Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-139661961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661961
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*852T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1066T>C
  hgvsp: ENSP00000263552.6:p.Tyr356His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1066T>C
  hgvsp: ENSP00000392702.2:p.Tyr356His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.862T>C
  hgvsp: ENSP00000388736.1:p.Tyr288His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1063T>C
  hgvsp: ENSP00000411326.1:p.Tyr355His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1201T>C
  hgvsp: ENSP00000411274.1:p.Tyr401His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1063T>C
  hgvsp: ENSP00000402536.1:p.Tyr355His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1066T>C
  hgvsp: ENSP00000392361.2:p.Tyr356His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1204T>C
  hgvsp: ENSP00000389414.2:p.Tyr402His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.428T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1034T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1063T>C
  hgvsp: ENSP00000338087.5:p.Tyr355His
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.546T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr402His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-139661964-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661964
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661964
    reference: chr 7
allele count: 1309
allele frequency: 1.078360299205852e-2
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1066C>G
  hgvsp: ENSP00000402536.1:p.Leu356Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1037C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1069C>G
  hgvsp: ENSP00000392702.2:p.Leu357Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1066C>G
  hgvsp: ENSP00000411326.1:p.Leu356Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*855C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1069C>G
  hgvsp: ENSP00000392361.2:p.Leu357Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1204C>G
  hgvsp: ENSP00000411274.1:p.Leu402Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1207C>G
  hgvsp: ENSP00000389414.2:p.Leu403Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.865C>G
  hgvsp: ENSP00000388736.1:p.Leu289Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1069C>G
  hgvsp: ENSP00000263552.6:p.Leu357Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.431C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1066C>G
  hgvsp: ENSP00000338087.5:p.Leu356Val
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.549C>G
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 23787
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
hgvs: p.Leu403Val
num of homozygotes: 68
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-139661964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661964
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661964
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1066C>T
  hgvsp: ENST00000448866.1:c.1066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1207C>T
  hgvsp: ENST00000416849.2:c.1207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1204C>T
  hgvsp: ENST00000458722.1:c.1204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1066C>T
  hgvsp: ENST00000411653.1:c.1066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.865C>T
  hgvsp: ENST00000425687.1:c.865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.549C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1069C>T
  hgvsp: ENST00000436047.2:c.1069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1066C>T
  hgvsp: ENST00000336425.5:c.1066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.431C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1069C>T
  hgvsp: ENST00000414508.2:c.1069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1037C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*855C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1069C>T
  hgvsp: ENST00000263552.6:c.1069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
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: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu403Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

7-139661980-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661981
    reference: chr 7
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*872dupT
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.566dupT
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1083dupT
  hgvsp: ENSP00000338087.5:p.Asp362Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1224dupT
  hgvsp: ENSP00000389414.2:p.Asp409Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1086dupT
  hgvsp: ENSP00000392361.2:p.Asp363Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1086dupT
  hgvsp: ENSP00000392702.2:p.Asp363Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1221dupT
  hgvsp: ENSP00000411274.1:p.Asp408Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.448dupT
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1083dupT
  hgvsp: ENSP00000402536.1:p.Asp362Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.882dupT
  hgvsp: ENSP00000388736.1:p.Asp295Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1086dupT
  hgvsp: ENSP00000263552.6:p.Asp363Ter
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1054dupT
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1083dupT
  hgvsp: ENSP00000411326.1:p.Asp362Ter
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp409Ter
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: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

7-139661986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139661986
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661986
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1059G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1229G>A
  hgvsp: ENSP00000389414.2:p.Cys410Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.887G>A
  hgvsp: ENSP00000388736.1:p.Cys296Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1091G>A
  hgvsp: ENSP00000392361.2:p.Cys364Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1091G>A
  hgvsp: ENSP00000263552.6:p.Cys364Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1088G>A
  hgvsp: ENSP00000402536.1:p.Cys363Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1226G>A
  hgvsp: ENSP00000411274.1:p.Cys409Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1091G>A
  hgvsp: ENSP00000392702.2:p.Cys364Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1088G>A
  hgvsp: ENSP00000411326.1:p.Cys363Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.453G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*877G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1088G>A
  hgvsp: ENSP00000338087.5:p.Cys363Tyr
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.571G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys410Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

7-139662001-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662001
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139661999
    reference: chr 7
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1112_1113delAG
  hgvsp: ENSP00000263552.6:p.Glu371GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1112_1113delAG
  hgvsp: ENSP00000392702.2:p.Glu371GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1250_1251delAG
  hgvsp: ENSP00000389414.2:p.Glu417GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1247_1248delAG
  hgvsp: ENSP00000411274.1:p.Glu416GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1109_1110delAG
  hgvsp: ENSP00000338087.5:p.Glu370GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.908_909delAG
  hgvsp: ENSP00000388736.1:p.Glu303GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.474_475delAG
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.592_593delAG
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1112_1113delAG
  hgvsp: ENSP00000392361.2:p.Glu371GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1109_1110delAG
  hgvsp: ENSP00000411326.1:p.Glu370GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*898_*899delAG
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1080_1081delAG
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1109_1110delAG
  hgvsp: ENSP00000402536.1:p.Glu370GlyfsTer5
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu417GlyfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: TGA
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-139662010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662010
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662010
    reference: chr 7
allele count: 4
allele frequency: 3.299567756623883e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.477T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.595T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1115T>C
  hgvsp: ENSP00000392702.2:p.Val372Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1250T>C
  hgvsp: ENSP00000411274.1:p.Val417Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.911T>C
  hgvsp: ENSP00000388736.1:p.Val304Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1115T>C
  hgvsp: ENSP00000263552.6:p.Val372Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1083T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1112T>C
  hgvsp: ENSP00000338087.5:p.Val371Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1115T>C
  hgvsp: ENSP00000392361.2:p.Val372Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1253T>C
  hgvsp: ENSP00000389414.2:p.Val418Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*901T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1112T>C
  hgvsp: ENSP00000402536.1:p.Val371Ala
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1112T>C
  hgvsp: ENSP00000411326.1:p.Val371Ala
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val418Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-139662030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662030
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662030
    reference: chr 7
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1273C>A
  hgvsp: ENSP00000389414.2:p.His425Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1132C>A
  hgvsp: ENSP00000411326.1:p.His378Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1135C>A
  hgvsp: ENSP00000392361.2:p.His379Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1132C>A
  hgvsp: ENSP00000338087.5:p.His378Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*921C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1135C>A
  hgvsp: ENSP00000263552.6:p.His379Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1135C>A
  hgvsp: ENSP00000392702.2:p.His379Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1103C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1132C>A
  hgvsp: ENSP00000402536.1:p.His378Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.931C>A
  hgvsp: ENSP00000388736.1:p.His311Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.497C>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1270C>A
  hgvsp: ENSP00000411274.1:p.His424Asn
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.615C>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His425Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-139662032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662032
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662032
    reference: chr 7
allele count: 3
allele frequency: 2.480363786688714e-5
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137C>T
  hgvsp: ENST00000414508.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134C>T
  hgvsp: ENST00000411653.1:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137C>T
  hgvsp: ENST00000436047.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275C>T
  hgvsp: ENST00000416849.2:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272C>T
  hgvsp: ENST00000458722.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134C>T
  hgvsp: ENST00000336425.5:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933C>T
  hgvsp: ENST00000425687.1:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137C>T
  hgvsp: ENST00000263552.6:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.617C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923C>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134C>T
  hgvsp: ENST00000448866.1:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.499C>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275C>T
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

7-139662033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662033
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662033
    reference: chr 7
allele count: 7
allele frequency: 5.790004797432546e-5
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.500G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+1G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.618G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+1G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275+1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

7-139662033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662033
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662033
    reference: chr 7
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000494876
  gene symbol: TBXAS1
  hgvsc: ENST00000494876.1:n.500G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.618G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+1G>T
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+1G>T
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275+1G>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-139662039-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662039
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662039
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.624A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+7A>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+7A>C
  variant of: http://identifiers.org/hgnc/11609
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1275+7A>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-139662044-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662044
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662044
    reference: chr 7
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.629T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+12T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+12T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-139662046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662046
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662046
    reference: chr 7
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.631G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+14G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+14G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-139662054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662054
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662054
    reference: chr 7
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.639T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+22T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+22T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

7-139662059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662059
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662059
    reference: chr 7
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.644C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+27C>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+27C>G
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-139662072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662072
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662072
    reference: chr 7
allele count: 6511
allele frequency: 5.457486756521156e-2
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.657T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+40T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+40T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 733
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 1.75e1
  variant carriers: 509
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 2.25e1
  variant carriers: 836
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 3.25e1
  variant carriers: 949
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 2.75e1
  variant carriers: 1069
genotype quality: GenotypeQuality
num of homozygotes: 297
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

7-139662073-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662073
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662073
    reference: chr 7
allele count: 4
allele frequency: 3.34929832200154e-5
allele num: 119428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.658A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+41A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+41A>G
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

7-139662074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662074
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662074
    reference: chr 7
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.659G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+42G>A
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+42G>A
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-139662079-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662079
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662079
    reference: chr 7
allele count: 23
allele frequency: 1.932415855892188e-4
allele num: 119022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.664A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+47A>G
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+47A>G
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16995
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-139662080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662080
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662080
    reference: chr 7
allele count: 7
allele frequency: 5.884429798752501e-5
allele num: 118958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.665T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+48T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+48T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17212
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

7-139662084-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139662084
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 139662084
    reference: chr 7
allele count: 1
allele frequency: 8.438533720380746e-6
allele num: 118504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411274
  ensembl transcript: ENST00000458722
  gene symbol: TBXAS1
  hgvsc: ENST00000458722.1:c.1272+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000411326
  ensembl transcript: ENST00000411653
  gene symbol: TBXAS1
  hgvsc: ENST00000411653.1:c.1134+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392702
  ensembl transcript: ENST00000414508
  gene symbol: TBXAS1
  hgvsc: ENST00000414508.2:c.1137+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000469630
  gene symbol: TBXAS1
  hgvsc: ENST00000469630.1:n.669T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl transcript: ENST00000462275
  gene symbol: TBXAS1
  hgvsc: ENST00000462275.1:n.1105+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000392361
  ensembl transcript: ENST00000436047
  gene symbol: TBXAS1
  hgvsc: ENST00000436047.2:c.1137+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000263552
  ensembl transcript: ENST00000263552
  gene symbol: TBXAS1
  hgvsc: ENST00000263552.6:c.1137+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000388736
  ensembl transcript: ENST00000425687
  gene symbol: TBXAS1
  hgvsc: ENST00000425687.1:c.933+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000415892
  ensembl transcript: ENST00000422328
  gene symbol: TBXAS1
  hgvsc: ENST00000422328.1:c.*923+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000338087
  ensembl transcript: ENST00000336425
  gene symbol: TBXAS1
  hgvsc: ENST00000336425.5:c.1134+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000402536
  ensembl transcript: ENST00000448866
  gene symbol: TBXAS1
  hgvsc: ENST00000448866.1:c.1134+52T>C
  variant of: http://identifiers.org/hgnc/11609
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000059377
  ensembl protein: ENSP00000389414
  ensembl transcript: ENST00000416849
  gene symbol: TBXAS1
  hgvsc: ENST00000416849.2:c.1275+52T>C
  variant of: http://identifiers.org/hgnc/11609
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS

GenotypeDepth
all individuals: 1107
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1366
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6889
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2110
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9928
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 901
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 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: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 1.114e0

DP
type: SiteQuality
SIO_000300: 1.852843e6

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

GenotypeDepth
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1817
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1365
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6895
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2109
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 900
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9924
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 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: 6610
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: 1
allele frequency: 6.056935190793458e-5
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

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 1.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.852858e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeDepth
all individuals: 1108
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6048
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26517
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9925
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 7.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66728
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: 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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.965e0

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 7.573e0

QD
type: SiteQuality
SIO_000300: 1.144e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.853092e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.117e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeDepth
all individuals: 641
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1469
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6893
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2577
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9925
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 8652
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

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

QD
type: SiteQuality
SIO_000300: 1.258e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.134e0

FS
type: SiteQuality
SIO_000300: 6.74e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.853023e6

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

GenotypeDepth
all individuals: 325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1365
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1470
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 514
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9925
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.25e1
variant carriers: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 4.288e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

DP
type: SiteQuality
SIO_000300: 1.853016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26497
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1818
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 898
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.853158e6

GenotypeDepth
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1818
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2665
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11576
num of homozygotes: 0

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

Other
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MQ
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.648433987711674e-4
allele num: 66730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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Other
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East Asian
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MQ
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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Latino
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FS
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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European (Non-Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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DP
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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South Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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MQ
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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ClippingRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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FS
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Latino
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African
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Other
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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FS
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DP
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MQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.998231043684226e-5
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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African
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Other
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South Asian
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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allele frequency: 2.592912705272256e-4
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European (Finnish)
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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African
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European (Non-Finnish)
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 1.169005960392232e-1
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European (Non-Finnish)
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allele frequency: 2.697518283179475e-4
allele num: 66728
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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South Asian
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66712
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Other
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European (Finnish)
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South Asian
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Latino
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African
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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African
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allele frequency: 0.0e0
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Latino
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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allele frequency: 7.521058965102287e-5
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

Other
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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DP
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2998
bin: 7.75e1
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GenotypeQuality
all individuals: 706
bin: 3.75e1
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GenotypeQuality
all individuals: 260
bin: 4.25e1
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GenotypeQuality
all individuals: 6267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 8.25e1
variant carriers: 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: 10218
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.825348e6

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 1.876e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
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GenotypeQuality
all individuals: 1972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6069
bin: 6.75e1
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: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.77e0

QD
type: SiteQuality
SIO_000300: 3.135e1

DP
type: SiteQuality
SIO_000300: 1.806712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeDepth
all individuals: 220
bin: 8.75e1
variant carriers: 53

GenotypeQuality
all individuals: 4832
bin: 6.75e1
variant carriers: 21

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2474
bin: 7.75e1
variant carriers: 23

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 131
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1469
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 791
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variant carriers: 22

GenotypeQuality
all individuals: 14899
bin: 9.75e1
variant carriers: 5998

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 168
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variant carriers: 2

GenotypeQuality
all individuals: 1722
bin: 8.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1270
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 18899
bin: 6.25e1
variant carriers: 24

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 788
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 3022
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2122
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2513
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1119
bin: 9.25e1
variant carriers: 24

GenotypeQuality
all individuals: 1858
bin: 4.75e1
variant carriers: 11

African
type: Population
allele count: 86
allele frequency: 8.541914978148589e-3
allele num: 10068
num of homozygotes: 0

Other
type: Population
allele count: 54
allele frequency: 6.013363028953229e-2
allele num: 898
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 124
allele frequency: 1.881067961165048e-2
allele num: 6592
num of homozygotes: 4

South Asian
type: Population
allele count: 846
allele frequency: 5.200393410376199e-2
allele num: 16268
num of homozygotes: 29

Latino
type: Population
allele count: 1579
allele frequency: 1.392416225749559e-1
allele num: 11340
num of homozygotes: 127

East Asian
type: Population
allele count: 1142
allele frequency: 1.361793465299308e-1
allele num: 8386
num of homozygotes: 79

European (Non-Finnish)
type: Population
allele count: 2680
allele frequency: 4.075921644968974e-2
allele num: 65752
num of homozygotes: 56

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

DP
type: SiteQuality
SIO_000300: 1.809442e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.683e1

GenotypeDepth
all individuals: 15500
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5362
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variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 2183
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variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19277
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variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 10141
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.039328916175308e-5
allele num: 65804
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.1454e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.676e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.761844e6

VQSLOD
type: SiteQuality
SIO_000300: -1.231e0

GenotypeDepth
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10138
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3642
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variant carriers: 0

GenotypeQuality
all individuals: 2168
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variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 5.25e1
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GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
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GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.761548e6

QD
type: SiteQuality
SIO_000300: 1.517e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeDepth
all individuals: 1990
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
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GenotypeQuality
all individuals: 4023
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variant carriers: 1

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 2177
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variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 3987
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variant carriers: 0

GenotypeQuality
all individuals: 2273
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variant carriers: 1

GenotypeQuality
all individuals: 3001
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variant carriers: 0

GenotypeQuality
all individuals: 1492
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GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 881
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GenotypeQuality
all individuals: 10160
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 15908
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variant carriers: 0

GenotypeQuality
all individuals: 2274
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variant carriers: 0

GenotypeQuality
all individuals: 5209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
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variant carriers: 0

GenotypeQuality
all individuals: 2160
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variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 23
allele frequency: 2.75647171620326e-3
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 1.749263e6

FS
type: SiteQuality
SIO_000300: 2.976e0

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeDepth
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 517
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GenotypeQuality
all individuals: 4016
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GenotypeQuality
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GenotypeQuality
all individuals: 882
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 2170
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GenotypeQuality
all individuals: 2119
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 2780
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GenotypeQuality
all individuals: 4317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10143
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
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variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004016064257028e-4
allele num: 9960
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.096817461285209e-5
allele num: 65608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 3.178e0

DP
type: SiteQuality
SIO_000300: 1.747948e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2783
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GenotypeQuality
all individuals: 4044
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 1977
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GenotypeQuality
all individuals: 4957
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GenotypeQuality
all individuals: 10718
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GenotypeQuality
all individuals: 882
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 1303
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 1490
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GenotypeQuality
all individuals: 4828
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GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4758
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10139
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529987760097919e-5
allele num: 65360
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.748901e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.078e0