16-69381696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381696
    reference: chr 16
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.484A>G
  hgvsp: ENSP00000288025.3:p.Ile162Val
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.617A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1732A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.461A>G
  hgvsp: ENSP00000462747.1:p.Ile155Val
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8416A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile162Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-69381699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381699
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381699
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.458G>A
  hgvsp: ENSP00000462747.1:p.Ala154Thr
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8413G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.614G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.481G>A
  hgvsp: ENSP00000288025.3:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1729G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52847
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala161Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

16-69381705-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381705
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381705
    reference: chr 16
allele count: 118
allele frequency: 9.720414518015717e-4
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1723C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.475C>A
  hgvsp: ENSP00000288025.3:p.Leu159Met
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8407C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.608C>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.452C>A
  hgvsp: ENSP00000462747.1:p.Leu152Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27575
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52888
  bin: 9.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu159Met
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-69381706-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381706
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381707
    reference: chr 16
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.606dupC
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1721dupC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8405dupC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.450dupC
  hgvsp: ENSP00000462747.1:p.Leu152SerfsTer5
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.473dupC
  hgvsp: ENSP00000288025.3:p.Leu159SerfsTer5
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu159SerfsTer5
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-69381707-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381707
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381707
    reference: chr 16
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.473C>G
  hgvsp: ENSP00000288025.3:p.Thr158Ser
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1721C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.450C>G
  hgvsp: ENSP00000462747.1:p.Thr151Ser
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8405C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.606C>G
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr158Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS

16-69381712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381712
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381712
    reference: chr 16
allele count: 8
allele frequency: 6.589785831960461e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.601T>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.468T>C
  hgvsp: ENST00000288025.3:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.445T>C
  hgvsp: ENST00000564737.1:c.445T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8400T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1716T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27536
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52845
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Asn149Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

16-69381712-ATTCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381712
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381707
    reference: chr 16
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1711_316+1715delCTGAA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.463_467delCTGAA
  hgvsp: ENSP00000288025.3:p.Leu155Ter
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.440_444delCTGAA
  hgvsp: ENSP00000462747.1:p.Leu148Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.596_600delCTGAA
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8395_2+8399delCTGAA
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27536
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu148Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: ATTCAG
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-69381713-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381713
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381713
    reference: chr 16
allele count: 137
allele frequency: 1.128500823723229e-3
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8399A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.600A>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1715A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.467A>C
  hgvsp: ENSP00000288025.3:p.Asn156Thr
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.444A>C
  hgvsp: ENSP00000462747.1:p.Asn149Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27563
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn156Thr
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-69381716-AGTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381716
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381713
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1709_316+1711delAAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.594_596delAAC
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.461_463delAAC
  hgvsp: ENSP00000288025.3:p.Gln154del
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8393_2+8395delAAC
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.438_440delAAC
  hgvsp: ENSP00000462747.1:p.Gln147del
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27490
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52828
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln154del
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: AGTT
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-69381722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381722
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381722
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.435A>G
  hgvsp: ENSP00000462747.1:p.Lys146Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.458A>G
  hgvsp: ENSP00000288025.3:p.Lys153Arg
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.591A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1706A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8390A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys153Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-69381746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381746
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381746
    reference: chr 16
allele count: 46
allele frequency: 3.788877174486031e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.567C>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1682C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.434C>T
  hgvsp: ENSP00000288025.3:p.Thr145Ile
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8366C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.411C>T
  hgvsp: ENSP00000462747.1:p.Thr138Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27505
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52841
  bin: 9.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr145Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

16-69381757-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381757
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381756
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8354delA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1670delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.555delA
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.399delA
  hgvsp: ENSP00000462747.1:p.Glu134GlyfsTer15
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.422delA
  hgvsp: ENSP00000288025.3:p.Glu141GlyfsTer15
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu141GlyfsTer15
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

16-69381758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381758
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381758
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8354A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.399A>G
  hgvsp: ENSP00000462747.1:p.Glu134Gly
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1670A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.422A>G
  hgvsp: ENSP00000288025.3:p.Glu141Gly
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.555A>G
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu141Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-69381761-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381761
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381761
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8351A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.396A>T
  hgvsp: ENSP00000462747.1:p.Tyr133Phe
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.552A>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1667A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.419A>T
  hgvsp: ENSP00000288025.3:p.Tyr140Phe
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr140Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

16-69381761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381761
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381761
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.419A>G
  hgvsp: ENSP00000288025.3:p.Tyr140Cys
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.552A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1667A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.396A>G
  hgvsp: ENSP00000462747.1:p.Tyr133Cys
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8351A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27471
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr140Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

16-69381769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381769
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1659G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.544G>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.388G>C
  hgvsp: ENST00000564737.1:c.388G>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8343G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.411G>C
  hgvsp: ENST00000288025.3:c.411G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29073
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53588
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly137Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

16-69381769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381769
    reference: chr 16
allele count: 7654
allele frequency: 6.304362150764364e-2
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1659G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8343G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.411G>A
  hgvsp: ENST00000288025.3:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.388G>A
  hgvsp: ENST00000564737.1:c.388G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.544G>A
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 8.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29073
  bin: 9.75e1
  variant carriers: 6913
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 9.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53588
  bin: 9.75e1
  variant carriers: 7306
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly137Gly
num of homozygotes: 347
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-69381778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381778
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381778
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.535C>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8334C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.379C>G
  hgvsp: ENST00000564737.1:c.379C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1650C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.402C>G
  hgvsp: ENST00000288025.3:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu134Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-69381780-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381780
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8332C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.377C>G
  hgvsp: ENSP00000462747.1:p.Leu127Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.533C>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.400C>G
  hgvsp: ENSP00000288025.3:p.Leu134Val
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1648C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu134Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

16-69381792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381792
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381792
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.365G>A
  hgvsp: ENSP00000462747.1:p.Val123Met
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8320G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.388G>A
  hgvsp: ENSP00000288025.3:p.Val130Met
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.521G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1636G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52458
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val130Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

16-69381798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381798
    reference: chr 16
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.382G>A
  hgvsp: ENSP00000288025.3:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.515G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.359G>A
  hgvsp: ENSP00000462747.1:p.Gly121Ser
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1630G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8314G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52458
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly121Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-69381798-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381798
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381797
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8313delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.514delC
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.358delC
  hgvsp: ENSP00000462747.1:p.Phe120LeufsTer29
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.381delC
  hgvsp: ENSP00000288025.3:p.Phe127LeufsTer29
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1629delC
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe127LeufsTer29
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: CG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

16-69381799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381799
    reference: chr 16
allele count: 14
allele frequency: 1.15315552773339e-4
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1629C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.381C>T
  hgvsp: ENST00000288025.3:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.358C>T
  hgvsp: ENST00000564737.1:c.358C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8313C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.514C>T
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52463
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe127Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-69381800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381800
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.513T>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8312T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.357T>C
  hgvsp: ENSP00000462747.1:p.Phe120Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.380T>C
  hgvsp: ENSP00000288025.3:p.Phe127Ser
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1628T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe127Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-69381802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381802
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.355C>T
  hgvsp: ENST00000564737.1:c.355C>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8310C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.378C>T
  hgvsp: ENST00000288025.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1626C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.511C>T
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His126His
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-69381807-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381807
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381807
    reference: chr 16
allele count: 16
allele frequency: 1.31791374254555e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.350A>C
  hgvsp: ENSP00000462747.1:p.Asn118His
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.373A>C
  hgvsp: ENSP00000288025.3:p.Asn125His
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.506A>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8305A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1621A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52457
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn125His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

16-69381813-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381813
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381813
    reference: chr 16
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8299C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.367C>A
  hgvsp: ENSP00000288025.3:p.Gln123Lys
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.344C>A
  hgvsp: ENSP00000462747.1:p.Gln116Lys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.500C>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1615C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24978
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52457
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln123Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

16-69381820-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381820
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381821
    reference: chr 16
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.336dupT
  hgvsp: ENSP00000462747.1:p.Ser114LysfsTer2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.492dupT
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1607dupT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.359dupT
  hgvsp: ENSP00000288025.3:p.Ser121LysfsTer2
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8291dupT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser121LysfsTer2
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-69381824-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381824
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381824
    reference: chr 16
allele count: 105
allele frequency: 8.650233968233046e-4
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.489G>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8288G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1604G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.333G>C
  hgvsp: ENSP00000462747.1:p.Cys112Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.356G>C
  hgvsp: ENSP00000288025.3:p.Cys119Ser
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 9.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52467
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys119Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-69381825-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381825
    reference: chr 16
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.488T>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8287T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.355T>G
  hgvsp: ENSP00000288025.3:p.Cys119Gly
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1603T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.332T>G
  hgvsp: ENSP00000462747.1:p.Cys112Gly
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24918
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys119Gly
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-69381828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381828
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381828
    reference: chr 16
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.352C>T
  hgvsp: ENSP00000288025.3:p.Leu118Phe
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.485C>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1600C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.329C>T
  hgvsp: ENSP00000462747.1:p.Leu111Phe
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8284C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu118Phe
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: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

16-69381843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381843
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381843
    reference: chr 16
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1585A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-4A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8269A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.470A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-4A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: c.341-4A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

16-69381857-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381857
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381857
    reference: chr 16
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8255A>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-18A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.456A>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1571A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-18A>T
  variant of: http://identifiers.org/hgnc/28331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-69381873-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381873
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381873
    reference: chr 16
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-34C>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8239C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.440C>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-34C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1555C>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52442
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

16-69381882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381882
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381882
    reference: chr 16
allele count: 2
allele frequency: 1.654642928056125e-5
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-43G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-43G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8230G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1546G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.431G>A
  variant of: http://identifiers.org/hgnc/28331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52441
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

16-69381883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381883
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381883
    reference: chr 16
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-44G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-44G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1545G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.430G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8229G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24916
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-69381884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381884
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381884
    reference: chr 16
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1544G>A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-45G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-45G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.429G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8228G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24916
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-69381886-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69381886
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69381886
    reference: chr 16
allele count: 7
allele frequency: 5.795469598622334e-5
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.318-47A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.341-47A>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+8226A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+1542A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157315
  ensembl transcript: ENST00000568748
  gene symbol: TMED6
  hgvsc: ENST00000568748.1:n.427A>C
  variant of: http://identifiers.org/hgnc/28331
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-69383378-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383378
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383378
    reference: chr 16
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+50A>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6734A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+50A>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+50A>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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genotype quality: GenotypeQuality
  all individuals: 1529
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-69383379-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383379
    reference: chr 16
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+49A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6733A>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+49A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+49A>T
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-69383379-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383379
    reference: chr 16
allele count: 2
allele frequency: 1.663755095249979e-5
allele num: 120210
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6733A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+49A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+49A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+49A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36922
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

16-69383383-TAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383383
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383380
    reference: chr 16
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+42_316+44delCCT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+42_317+44delCCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6726_2+6728delCCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+42_340+44delCCT
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36931
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: TAGG
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-69383389-C-CAAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383389
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383393
    reference: chr 16
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: CAAGG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6722_2+6723insCCTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+38_316+39insCCTT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+38_317+39insCCTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+38_340+39insCCTT
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-69383392-A-ATGATTATTATAATAGCCATGGTAATGAAAACAGACCTGTCTCTTGGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383440
    reference: chr 16
allele count: 10
allele frequency: 8.30702774547267e-5
allele num: 120380
alternate allele: ATGATTATTATAATAGCCATGGTAATGAAAACAGACCTGTCTCTTGGGT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36930
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-69383394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383394
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383394
    reference: chr 16
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6718C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+34C>T
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+34C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+34C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36929
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

16-69383402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383402
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383402
    reference: chr 16
allele count: 11
allele frequency: 9.12529864613751e-5
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+26A>G
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6710A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+26A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+26A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36930
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

16-69383404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383404
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383404
    reference: chr 16
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+24T>C
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6708T>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+24T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+24T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7474
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

16-69383409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383409
    reference: chr 16
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+19G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+19G>A
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6703G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+19G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

16-69383417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383417
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383417
    reference: chr 16
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6695A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.316+11A>G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.317+11A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.340+11A>G
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-69383440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383440
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383440
    reference: chr 16
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.304A>G
  hgvsp: ENSP00000464417.1:p.Thr102Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.305A>G
  hgvsp: ENSP00000462747.1:p.Thr103Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.328A>G
  hgvsp: ENSP00000288025.3:p.Thr110Ala
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6672A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr110Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-69383443-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383443
    reference: chr 16
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.302T>A
  hgvsp: ENSP00000462747.1:p.Ser102Thr
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6669T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.325T>A
  hgvsp: ENSP00000288025.3:p.Ser109Thr
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.301T>A
  hgvsp: ENSP00000464417.1:p.Ser101Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser109Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-69383450-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383450
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383450
    reference: chr 16
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.295T>C
  hgvsp: ENST00000564737.1:c.295T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6662T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.318T>C
  hgvsp: ENST00000288025.3:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.294T>C
  hgvsp: ENST00000570293.1:c.294T>C(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile106Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-69383451-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383451
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383451
    reference: chr 16
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6661T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.317T>A
  hgvsp: ENSP00000288025.3:p.Ile106Asn
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.294T>A
  hgvsp: ENSP00000462747.1:p.Ile99Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.293T>A
  hgvsp: ENSP00000464417.1:p.Ile98Asn
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36930
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile106Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-69383452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383452
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383452
    reference: chr 16
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.293A>G
  hgvsp: ENSP00000462747.1:p.Ile99Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.316A>G
  hgvsp: ENSP00000288025.3:p.Ile106Val
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6660A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.292A>G
  hgvsp: ENSP00000464417.1:p.Ile98Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile106Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-69383456-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383456
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383457
    reference: chr 16
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.288dupG
  hgvsp: ENSP00000462747.1:p.Gln98ProfsTer3
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.311dupG
  hgvsp: ENSP00000288025.3:p.Gln105ProfsTer3
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.287dupG
  hgvsp: ENSP00000464417.1:p.Gln97ProfsTer3
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6655dupG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln105ProfsTer3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

16-69383457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383457
    reference: chr 16
allele count: 20
allele frequency: 1.647853670594051e-4
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.288G>A
  hgvsp: ENSP00000462747.1:p.Gly97Asp
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6655G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.311G>A
  hgvsp: ENSP00000288025.3:p.Gly104Asp
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.287G>A
  hgvsp: ENSP00000464417.1:p.Gly96Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36927
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly104Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-69383460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383460
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383460
    reference: chr 16
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6652G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.284G>A
  hgvsp: ENSP00000464417.1:p.Arg95Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.285G>A
  hgvsp: ENSP00000462747.1:p.Arg96Gln
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.308G>A
  hgvsp: ENSP00000288025.3:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg103Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-69383461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383461
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383461
    reference: chr 16
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.284C>T
  hgvsp: ENSP00000462747.1:p.Arg96Trp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.307C>T
  hgvsp: ENSP00000288025.3:p.Arg103Trp
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6651C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.283C>T
  hgvsp: ENSP00000464417.1:p.Arg95Trp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36920
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg103Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-69383482-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383482
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383482
    reference: chr 16
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.262A>T
  hgvsp: ENSP00000464417.1:p.Ile88Leu
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6630A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.263A>T
  hgvsp: ENSP00000462747.1:p.Ile89Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.286A>T
  hgvsp: ENSP00000288025.3:p.Ile96Leu
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  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: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile96Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-69383490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383490
    reference: chr 16
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6622G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.278G>A
  hgvsp: ENSP00000288025.3:p.Gly93Glu
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.254G>A
  hgvsp: ENSP00000464417.1:p.Gly85Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.255G>A
  hgvsp: ENSP00000462747.1:p.Gly86Glu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly93Glu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-69383502-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383502
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383502
    reference: chr 16
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.242A>T
  hgvsp: ENSP00000464417.1:p.His81Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.266A>T
  hgvsp: ENSP00000288025.3:p.His89Leu
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6610A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.243A>T
  hgvsp: ENSP00000462747.1:p.His82Leu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36915
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His89Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-69383504-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383504
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383504
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.240A>C
  hgvsp: ENST00000570293.1:c.240A>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.241A>C
  hgvsp: ENST00000564737.1:c.241A>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.264A>C
  hgvsp: ENST00000288025.3:c.264A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6608A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala88Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-69383508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383508
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383508
    reference: chr 16
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.237C>T
  hgvsp: ENSP00000462747.1:p.Thr80Met
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.260C>T
  hgvsp: ENSP00000288025.3:p.Thr87Met
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6604C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.236C>T
  hgvsp: ENSP00000464417.1:p.Thr79Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36916
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr87Met
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

16-69383508-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383508
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383508
    reference: chr 16
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.236C>G
  hgvsp: ENSP00000464417.1:p.Thr79Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.260C>G
  hgvsp: ENSP00000288025.3:p.Thr87Arg
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.237C>G
  hgvsp: ENSP00000462747.1:p.Thr80Arg
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6604C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36916
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8863
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr87Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

16-69383510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383510
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383510
    reference: chr 16
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6602C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.258C>T
  hgvsp: ENST00000288025.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.235C>T
  hgvsp: ENST00000564737.1:c.235C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.234C>T
  hgvsp: ENST00000570293.1:c.234C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala86Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

16-69383512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383512
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383512
    reference: chr 16
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.232G>A
  hgvsp: ENSP00000464417.1:p.Ala78Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.256G>A
  hgvsp: ENSP00000288025.3:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6600G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.233G>A
  hgvsp: ENSP00000462747.1:p.Ala79Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala86Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

16-69383513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383513
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383513
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6599T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.255T>C
  hgvsp: ENST00000288025.3:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.232T>C
  hgvsp: ENST00000564737.1:c.232T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.231T>C
  hgvsp: ENST00000570293.1:c.231T>C(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala85Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-69383514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383514
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383514
    reference: chr 16
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.230C>T
  hgvsp: ENSP00000464417.1:p.Ala77Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.254C>T
  hgvsp: ENSP00000288025.3:p.Ala85Val
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.231C>T
  hgvsp: ENSP00000462747.1:p.Ala78Val
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6598C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36913
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala85Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/16-69383518-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383518
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383518
    reference: chr 16
allele count: 20
allele frequency: 1.648043772042586e-4
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.227G>T
  hgvsp: ENSP00000462747.1:p.Val77Phe
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.226G>T
  hgvsp: ENSP00000464417.1:p.Val76Phe
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6594G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.250G>T
  hgvsp: ENSP00000288025.3:p.Val84Phe
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val84Phe
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: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-69383518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383518
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383518
    reference: chr 16
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.227G>A
  hgvsp: ENSP00000462747.1:p.Val77Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.250G>A
  hgvsp: ENSP00000288025.3:p.Val84Ile
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6594G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.226G>A
  hgvsp: ENSP00000464417.1:p.Val76Ile
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36914
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val84Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-69383519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383519
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6593T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.226T>C
  hgvsp: ENST00000564737.1:c.226T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.225T>C
  hgvsp: ENST00000570293.1:c.225T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.249T>C
  hgvsp: ENST00000288025.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28331
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His83His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-69383524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383524
    reference: chr 16
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.244C>T
  hgvsp: ENSP00000288025.3:p.Arg82Trp
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.220C>T
  hgvsp: ENSP00000464417.1:p.Arg74Trp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.221C>T
  hgvsp: ENSP00000462747.1:p.Arg75Trp
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6588C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36904
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg82Trp
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: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-69383542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383542
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383542
    reference: chr 16
allele count: 9
allele frequency: 7.422802850356295e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.202G>A
  hgvsp: ENSP00000464417.1:p.Val68Met
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.226G>A
  hgvsp: ENSP00000288025.3:p.Val76Met
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6570G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.203G>A
  hgvsp: ENSP00000462747.1:p.Val69Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36890
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val76Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

16-69383544-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383544
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 69383544
    reference: chr 16
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157315
  ensembl protein: ENSP00000288025
  ensembl transcript: ENST00000288025
  gene symbol: TMED6
  hgvsc: ENST00000288025.3:c.224C>G
  hgvsp: ENSP00000288025.3:p.Thr75Arg
  variant of: http://identifiers.org/hgnc/28331
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000464417
  ensembl transcript: ENST00000570293
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000570293.1:c.200C>G
  hgvsp: ENSP00000464417.1:p.Thr67Arg
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259900
  ensembl protein: ENSP00000462747
  ensembl transcript: ENST00000564737
  gene symbol: RP11-343C2.7
  hgvsc: ENST00000564737.1:c.201C>G
  hgvsp: ENSP00000462747.1:p.Thr68Arg
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000260371
  ensembl protein: ENSP00000454500
  ensembl transcript: ENST00000563634
  gene symbol: RP11-343C2.9
  hgvsc: ENST00000563634.1:c.2+6568C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr75Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-69383547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69383547
    reference: chr 16
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg74Gln
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52847
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 5.554648e6

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4961
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.183e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 5.554822e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.011e1

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

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

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

GenotypeQuality
all individuals: 451
bin: 7.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.72346611515751e-3
allele num: 66726
num of homozygotes: 1

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

FS
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.724e0

DP
type: SiteQuality
SIO_000300: 5.564566e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 4972
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52845
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.552698e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.058e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.241e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

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

GenotypeQuality
all individuals: 52844
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
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: 6614
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 5.552803e6

FS
type: SiteQuality
SIO_000300: 1.851e0

GenotypeQuality
all individuals: 4975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198861081972126e-4
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.224e1

FS
type: SiteQuality
SIO_000300: 1.107e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 5.553619e6

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

GenotypeQuality
all individuals: 52845
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4975
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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: 66730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 5.553619e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 1.107e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

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

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

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52847
bin: 9.75e1
variant carriers: 136

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 129
allele frequency: 1.239669421487603e-2
allele num: 10406
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.38e1

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

DP
type: SiteQuality
SIO_000300: 5.565132e6

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.865e1

DP
type: SiteQuality
SIO_000300: 5.549002e6

GenotypeQuality
all individuals: 52828
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 5.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 5.548635e6

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 46
allele frequency: 2.786190187764991e-3
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.326e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 5.552044e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.803e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

DP
type: SiteQuality
SIO_000300: 5.547822e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.047e1

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

DP
type: SiteQuality
SIO_000300: 5.547606e6

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 5.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

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

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

GenotypeQuality
all individuals: 1100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52825
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.445e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 5.547854e6

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52825
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 5.547854e6

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 4602
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
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: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

QD
type: SiteQuality
SIO_000300: 1.502e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 6.168772e6

GenotypeQuality
all individuals: 4602
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 676
allele frequency: 5.838659526688547e-2
allele num: 11578
num of homozygotes: 34

European (Non-Finnish)
type: Population
allele count: 3896
allele frequency: 5.837753603644101e-2
allele num: 66738
num of homozygotes: 126

South Asian
type: Population
allele count: 1272
allele frequency: 7.704421562689279e-2
allele num: 16510
num of homozygotes: 77

African
type: Population
allele count: 1363
allele frequency: 1.309821256967134e-1
allele num: 10406
num of homozygotes: 102

European (Finnish)
type: Population
allele count: 242
allele frequency: 3.658905352283036e-2
allele num: 6614
num of homozygotes: 3

Other
type: Population
allele count: 58
allele frequency: 6.387665198237885e-2
allele num: 908
num of homozygotes: 3

East Asian
type: Population
allele count: 147
allele frequency: 1.698636468685001e-2
allele num: 8654
num of homozygotes: 2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 6.168772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.502e1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

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

GenotypeQuality
all individuals: 1152
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8654
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 4.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 5.288271e6

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1153
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variant carriers: 0

GenotypeQuality
all individuals: 343
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GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.288177e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 7.52e0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 374
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5317
bin: 6.25e1
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GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

DP
type: SiteQuality
SIO_000300: 5.288195e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 4.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 5.28837e6

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.45e1

DP
type: SiteQuality
SIO_000300: 5.28837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 0
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variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.356e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.288823e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 5320
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GenotypeQuality
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GenotypeQuality
all individuals: 374
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GenotypeQuality
all individuals: 205
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.130000000000001e0

DP
type: SiteQuality
SIO_000300: 5.287776e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.405e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
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allele count: 16
allele frequency: 1.848856020337416e-3
allele num: 8654
num of homozygotes: 0

African
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South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

DP
type: SiteQuality
SIO_000300: 5.289075e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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African
type: Population
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
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Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

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

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

GenotypeQuality
all individuals: 462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.847721822541966e-4
allele num: 66720
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: 6614
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.846722403974312e-4
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 76
allele frequency: 8.782066096602727e-3
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.291339e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 1.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

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

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

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.297e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

DP
type: SiteQuality
SIO_000300: 5.281971e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 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: 10402
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: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.281959e6

FS
type: SiteQuality
SIO_000300: 1.182e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
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: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.611e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -3.133e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.951e0

MQRankSum
type: SiteQuality
SIO_000300: -1.429e0

DP
type: SiteQuality
SIO_000300: 5.279218e6

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 52446
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.938e0

QD
type: SiteQuality
SIO_000300: 1.466e1

DP
type: SiteQuality
SIO_000300: 5.273026e6

FS
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223391240518718e-4
allele num: 16348
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

DP
type: SiteQuality
SIO_000300: 5.256235e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.937984496124031e-4
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

DP
type: SiteQuality
SIO_000300: 5.245648e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2054
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 8642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 5.244897e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.509e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 1.026e1

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.474e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 5.244223e6

GenotypeQuality
all individuals: 835
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52436
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051840721262209e-4
allele num: 66550
num of homozygotes: 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: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 5.24214e6

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
all individuals: 4572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 5.47e0

MQRankSum
type: SiteQuality
SIO_000300: -4.563e0

VQSLOD
type: SiteQuality
SIO_000300: -3.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 5.864e0

MQ
type: SiteQuality
SIO_000300: 5.71e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 3.029235e6

GenotypeQuality
all individuals: 1736
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3244
bin: 9.25e1
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: 10294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

DP
type: SiteQuality
SIO_000300: 3.02945e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 1527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016045361322234e-5
allele num: 66312
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

DP
type: SiteQuality
SIO_000300: 3.02945e6

FS
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

GenotypeQuality
all individuals: 586
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.856e0

DP
type: SiteQuality
SIO_000300: 3.031587e6

MQ
type: SiteQuality
SIO_000300: 5.564e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 1.2735e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.435e0

QD
type: SiteQuality
SIO_000300: 4.44e0

VQSLOD
type: SiteQuality
SIO_000300: -2.027e0

GenotypeQuality
all individuals: 5997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

MQ
type: SiteQuality
SIO_000300: 5.552e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.521e0

FS
type: SiteQuality
SIO_000300: 1.1132e1

QD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 3.037756e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 2814
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6322
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.2375249500998e-4
allele num: 16032
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.039341e6

MQ
type: SiteQuality
SIO_000300: 5.169e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 1.127e0

QD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -9.664e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.755e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 1739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.233636703652911e-5
allele num: 16042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.582e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 5.414e0

DP
type: SiteQuality
SIO_000300: 3.04263e6

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.092e1

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

GenotypeQuality
all individuals: 7310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.204130166470996e-4
allele num: 66438
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.904725019364833e-4
allele num: 10328
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.04969e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.124e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.468e1

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

FS
type: SiteQuality
SIO_000300: 9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 3.049307e6

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 36928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.534e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

DP
type: SiteQuality
SIO_000300: 3.054951e6

FS
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

GenotypeQuality
all individuals: 8322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3250
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.902e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.451e0

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: -9.444e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 3.059809e6

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2823
bin: 8.25e1
variant carriers: 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: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

DP
type: SiteQuality
SIO_000300: 3.066674e6

QD
type: SiteQuality
SIO_000300: 1.399e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 8819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.076e0

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.076e0

DP
type: SiteQuality
SIO_000300: 3.066804e6

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 8844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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: 6614
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 4.215e0

QD
type: SiteQuality
SIO_000300: 1.819e1

DP
type: SiteQuality
SIO_000300: 3.066911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.148e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
all individuals: 2823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
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Other
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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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European (Finnish)
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allele num: 6614
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South Asian
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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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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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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African
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Latino
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European (Non-Finnish)
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Other
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DP
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 2.998410842253605e-4
allele num: 66702
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European (Finnish)
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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QD
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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African
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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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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African
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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 frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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QD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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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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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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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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South Asian
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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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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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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FS
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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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African
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European (Non-Finnish)
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QD
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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QD
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ClippingRankSum
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SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.446e0

FS
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

MQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

DP
type: SiteQuality
SIO_000300: 3.060674e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 36914
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 3.060626e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.055e1

FS
type: SiteQuality
SIO_000300: 3.199e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.786e0

MQRankSum
type: SiteQuality
SIO_000300: -1.012e0

GenotypeQuality
all individuals: 1573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36912
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.060524e6

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.099e0

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

GenotypeQuality
all individuals: 2820
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 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: 66718
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 1.133e0

DP
type: SiteQuality
SIO_000300: 3.060439e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.206e0

QD
type: SiteQuality
SIO_000300: 1.536e1

GenotypeQuality
all individuals: 36914
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 20
allele frequency: 1.728011059270779e-3
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.724e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.059809e6

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.724e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 3.059809e6

GenotypeQuality
all individuals: 1572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.523e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.092e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 3.058194e6

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.057863e6

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
all individuals: 8405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349973000539989e-4
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

FS
type: SiteQuality
SIO_000300: 1.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 3.05081e6

GenotypeQuality
all individuals: 36886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.43e1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 3.049042e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0